Previous issue | Volume 95 | ESPE2022 | Next issue

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

Card image cap
The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 1

Pituitary, Neuroendocrinology and Puberty

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0095p1-144 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Precocious puberty and other pubertal disorders in females during the Italian lockdown and the coronavirus 2019 (COVID-19) pandemic

Stagi Stefano , Elisabeth Street Maria , Sartori Chiara , Ferrari Vittorio , Petraroli Maddalena , Messina Giulia , Lattanzi Claudia , Insalaco Anna , Gnocchi Margherita , Alberghi Francesca , Righi Beatrice , Buia Veronica , Lucaccioni Laura , Messa Federica , Varriale Gaia , Bencini Erica , Ricci Franco , Predieri Barbara , Iughetti Lorenzo

Background: At present few data have clearly showed an increased frequency of idiopathic central precocious puberty (CPP) in females during the COVID-19 pandemic. The role of environmental factors is not fully understood and various hypotheses have been formulated.Aims of the study: To evaluate retrospectively the incidence of newly diagnosed CPP and other pubertal disorders (Premature thelarche, early puberty, fast pube...

hrp0095p1-145 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spatial navigation and memory in transgender male adolescents treated with gender affirming hormones

Perl Liat , Oren Asaf , C. Mueller Sven , Raphael Ido , Borger Ophir , Sheppes Tamar , Shechner Tomer

Background: Spatial navigation is an essential human skill that helps individuals track their changes in position and orientation by integrating self-motion cues. Meta-analyses indicate that males, on average, perform better than females on a number of spatial tasks. Sex steroids, mainly androgens, modulate the remodeling of synapses in the prefrontal cortex and hippocampus, a limbic brain area with critical influence on spatial and contextual memory. Androgen...

hrp0095p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spectrum of Endocrinopathy in Children with Ectopic Posterior Pituitary (EPP)

Malhotra Neha , Amin Arliena , Cerbone Manuela , Bosch Laura , Tollerfield Sally , Atterbury Abigail , Katugampola Harshini , Dattani Mehul

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

hrp0095p1-147 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Prevalence of Polycystic Ovarian Syndrome (PCOS) In Girls with History of Idiopathic Central Precocious Puberty (ICPP).

Josefina Arcari Andrea , Verónica Freire Analía , Gabriela Ballerini María , María Díaz Marsiglia Yenifer , Bergadá Ignacio , Gabriela Ropelato María , Graciela Gryngarten Mirta

Introduction: The prevalence of PCOS in adolescents and young women was established at 4.3%. Whether women with a history of ICPP are at increased risk for PCOS is still controversial. There is no clear evidence that ICPP girls treated with GnRH analogues (GnRHa) are more likely to develop PCOS than their age-matched peers.Objectives: To assess the prevalence of PCOS in adolescents with a history of ICPP and further comp...

hrp0095p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Usefulness of Next Generation Sequencing in the Molecular Diagnosis of McCune-Albright Syndrome in Peripheral Blood

Guimarães Faria Aline , Augusto Lima Jorge Alexander , Montenegro Luciana , Pinheiro Machado Canto Ana , Eduardo Seraphim Carlos , Rezende Tinano Flavia , Soares Jallad Raquel , Matsunaga Martin Regina , Candida Villares Fragoso Maria , Christina Souza Pinto Nadja , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

hrp0095p1-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Validation of Puberty Interpreter, a mobile application-based evaluation of pubertal disorders

Banerjee Sayan , Mehta Sajili , Sen Proteek , Narayanan R , Agrawal Manoj , Shukla Rishi , Bajpai Anurag

Background: Assessment of pubertal disorders is challenging for the pediatricians causing unnecessary evaluation on one hand while missing pathology on the other. The paucity of pediatric endocrine centers further adds to the problem in resource poor settings. We have developed puberty interpreter, a mobile application that provides instantaneous guidance regarding diagnosis and management of children and adolescents with concern for pubertal disorders based o...

hrp0095p1-150 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal dysfunctions in intracranial germ cell tumours

Partenope Cristina , Carceller Fernando , Albanese Assunta

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

hrp0095p1-151 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The effect of a GnRH analogue injection on the circulating levels of kisspeptin-1 in girls with suspected central precocious puberty

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

hrp0095p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

COVID-19 and precocious puberty: Does BMI play a role?

Pepino Carlotta , Fava Daniela , Pepe Alessia , Strati Marina , Paoloni Dalila , Patti Giuseppa , Elsa Maria Allegri Anna , Maghnie Mohamad , Di Iorgi Natascia

Background: Since COVID-19 the number of girls referred to pediatric endocrinologist for suspected precocious puberty (PP) and early puberty (EP) has increased. The aim of the study was to evaluate the incidence, the anthropometric, biochemical and radiological characteristics of PP during the COVID-19 pandemic, compared to previous years.Methods: We retrospectively evaluated medical records of 464 females (F) referred t...

hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0095p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old

Corripio Raquel , Villalobos Marisa , Patricia Beltrán-Salazar Viviana , Pérez Jacobo , Duran Carmina

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

hrp0095p1-155 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of the influence of the gonadotropin-releasing hormone agonist therapy on growth and body mass index in girls with idiopathic central precocious puberty

Donbaloğlu Zeynep , Bedel Aynur , Barsal Çetiner Ebru , Singin Berna , Aydın Behram Bilge , Tuhan Hale , Parlak Mesut

Objective: We aimed to examine the auxological findings of the girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the Gonadotropin-releasing hormone analogs (GnRHa) treatment and to investigate the effect of related factors on the height gain of those patients.Methods: This study was designed as single-center, descriptive, cross-sectional retrospective study. A total of 43 patients who were di...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0095p1-157 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Effect of gonadotropin-releasing hormone agonist monotherapy and combination therapy with growth hormone on final adult height in girls with central precocious puberty

Sang Lee Hae , Young Cho Ah , Suk Shim Young , Sub Lim Jung , Soon Hwang Jin

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...

hrp0095p1-158 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Findings and Endocrine Follow-up of Childhood Craniopharyngioma Cases

Öner Ganimet , Döğer Esra , Bideci Aysun , Orhun Çamurdan Mahmut

Introduction: Craniopharyngioma is a low malignant potential tumor of embryological origin of the sellar/suprasellar region. It occurs with various symptoms and signs such as headache, vomiting, vision loss and endocrinological disorders. It was aimed to evaluate the presentation findings and endocrinological disorders in the follow-up in childhood craniopharyngioma cases.Methods: The patients followed up with the diagno...

hrp0095p1-159 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height and bone mineral density of the children who were treated with gonadotropin releasing hormone analogues near the age eight

Bahar Semra , Tolga Ozgen Ilker

Aim: Central precocious puberty (CPP) is defined as premature activation of the hypothalamic–pituitary–gonadal (HPG) axis before the age 8 in girls. Precocious puberty starting at a very young age causes a severe loss in height potential and should be treated with gonadotropin releasing hormone agonists (GnRHa). However, there are controversial results about the benefit of the GnRHa treatment in girls whose CPP is initiated near the age 8. This stu...

hrp0095p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central diabetes insipidus following immunization with anti-COVID19 BNT162b2 Comirnaty vaccine

Partenope Cristina , Pedranzini Quincy , Petri Antonella , Prodam Flavia , Bellone Simonetta , Rabbone Ivana

Introduction: The coronavirus disease 19 (COVID19) pandemic urged to develop new vaccines to reduce the morbidity and mortality associated with this disease. Recognition and report of potential adverse effects of these novel vaccines (especially the urgent and life-threatening ones) is therefore essential.Case Presentation: A 16-year-old boy presented to the Paediatric Emergency Department with polyuria (9 liters per day...

hrp0095p1-161 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Causal Effect of Age at Menarche on the Risk for Depression: Results from a Two-Sample Multivariable Mendelian Randomization Study

Hirtz Raphael , Hars Christine , Naaresh Roaa , Hergen Laabs Björn , Antel Jochen , Grasemann Corinna , Hinney Anke , Hebebrand Johannes , Peters Triinu

Background: A fair number of epidemiological studies suggest that age at menarche (AAM) is associated with depression, but the reported effect sizes are small, and there is evidence of residual confounding. Moreover, previous Mendelian randomization (MR) studies to avoid inferential problems inherent to epidemiological studies have provided mixed findings.Methods: To clarify the causal relationship between age at menarch...

hrp0095p1-162 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Complications of non-endocrine pituitary tumors in children, in the city of Oran

Faraoun Khadra , Chentli Farida , Zoubir Safia , Midoun Nori

Background: Non-endocrine pituitary tumors (NEPT) correspond to expansive processes, developing at the expense of non-endocrine pituitary lodge structures. Our objective is to evaluate their prevalence and their incidence rates in Oran, Algeria.Patients and Methods: This is a cross-sectional descriptive multicenter study in the town of Oran study. Data were collected prospectively from Avril 2014 to Mars 2015 and retrosp...

hrp0095p1-163 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Stress and Hyperprolactinemia: Can a Stimulation Test be Used to Evaluate?

Makosiej Nicholas , Jeanette Haugh , Ghanny Steven , Aisenberg Javier

Background: Prolactin is a peptide hormone produced by the anterior pituitary gland. Hyperprolactinemia can be caused by stress, but pathological causes of hyperprolactinemia could be due hypothyroidism, medications or hypothalamic/pituitary tumors. It is important to differentiate between the causes of hyperprolactinemia. The best way to accomplish this is via a rest test. One way to accomplish this would be to measure prolactin levels as a part of a hormone ...

hrp0095p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Familial Central Precocious Puberty: a case of three siblings with MKRN3 mutation

d'Aniello Francesco , Ubertini Graziamaria , Elisa Amodeo Maria , Mirra Giulia , Criscuolo Sabrina , Mucciolo Mafalda , Fintini Danilo , Cappa Marco

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

hrp0095p1-165 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The Effect of Metformin on the Onset of Menarche and The Final Height of Obese Girls

Salehpour Shadab , Kalantari Fatemeh , Setavand Somayeh

Background/aims: Obese girls experience precocious puberty which could influence their final height. We studied the effect of metformin on their body weight, final height, onset of menarche, and bone age.Methods: In a prospective study, 63 obese girls aged between 8 -13 years old were treated with metformin (500-1000 mg/daily and compared with control at the outpatient pediatric endocrine clinic of Loghman Hakim Hospital...

hrp0095p1-166 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Metabolic setup in infants with panhypopituitarism

Sukarova-Angelovska Elena , Krstevska-Konstantinova Marina , Alulovska Natasa , Doksimovski Filip , Teov Bojan

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a...

hrp0095p1-167 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A PROP1 Compound Heterozygosity with Pituitary Enlargement

Gucev Zoran , Janchevska Aleksandra , Beqiri-Jashari Ardiana , Plasevska-Karanfilska Dijana , Trpkovska Jovana , Noveski Predrag

A PROP1 homozygous mutation was found in an 8 years old boy who was referred for fatigue, general slowness, dry skin, normal weight and slow growth. His T4 and TSH were low, while tests of pituitary reserve were normal as well as the concentrations of ACTH and cortisol. FSH/LH/T/E were in the pre-pubertal range. TRH test resulted in no increased TSH and T4, confirming the pituitary origin of the defect. MRI of the pituitary hypothalamic region revealed an enlargement of the an...

hrp0095p1-168 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Are Obese Cases with Precocious Puberty Diagnosed Late?

Kılınç Uğurlu Aylin , Boyraz Mehmet

Introduction: Today, excessive nutrition and obesity are the leading environmental factors affecting this puberty. We planned to investigate the prevalence of obesity in our patients who received GnRH analog therapy in our clinic, and the distribution, clinical features and laboratory findings of our patients with and without obesity.Methods: In the study, female patients who received GnRH analog therapy in the Pediatric...

hrp0095p1-341 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Proposal of a diagnostic flow-chart for the diagnosis of central precocious puberty (CPP) in females

Baronio Federico , Ortolano Rita , Candela Egidio , Bernardini Luca , Cassio Alessandra

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...

hrp0095p1-342 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Redefinition of LH Cut-Off to Earlier Diagnose Evolutive Precocious Puberty After Triptorelin Stimulation Test

Cavarzere Paolo , Arrigoni Marta , Guardo Chiara , Gaudino Rossella , Antoniazzi Franco

Introduction: Precocious puberty (PP) is defined as the appearance of thelarche before the age of 8 years, in girls. The gold standard for the diagnosis is represented by the increase of LH level after stimulation with native GnRH, but a feasible alternative involves the administration of GnRH analogues. This test is poorly standardised and currently literature lacks of defined values to confirm the activation of the hypothalamic-gonadal axis, since they depen...

hrp0095p1-343 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Subcutaneous Triptorelin stimulation test for diagnosing central precocious puberty in girls

Sang Lee Hae , Suk Shim Young , Sub Lim Jung , Soon Hwang Jin

Objective: Central precocious puberty (CPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis. The gonadotropin releasing hormone (GnRH) stimulation test has become widely used in the evaluation of CPP. However, intravenous GnRH is often not readily available for commercial use. Therefore, we aimed to evaluate the diagnostic accuracy of the Triptorelin test compared to the GnRH test.Methods: A tot...

hrp0095p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Puberty patterns in boys with X-linked congenital adrenal hypoplasia.

Kolesinska Zofia , Rojek Aleksandra , Malecka Elzbieta , Slomko-Jozwiak Malgorzata , Obara-Moszynska Monika , Banaszak-Ziemska Magdalena , Niedziela Marek

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...

hrp0095p1-345 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels

Karakilic Ozturan Esin , Karaman Volkan , Yusuf Gelmez Metin , Yıldız Melek , Poyrazoğlu Sukran , Baş Firdevs , Oya Uyguner Zehra , Darendeliler Feyza

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

hrp0095p1-346 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

In between isolated premature thelarche and central precocious puberty: when DHEAS makes the difference

Rodari Giulia , Collini Valentina , Giacchetti Federico , Profka Eriselda , Dall'Antonia Alberta , Arosio Maura , Giavoli Claudia

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and estrogen exposure is still to be elucidate...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0095p1-348 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Bezen Diğdem , Kutlu Orkide , Mouilleron Stephane , Rizzoti Karine , Dattani Mehul , Guran Tulay , Yeşil Gözde

Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compar...

hrp0095p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of Urinary Gonadotropins for The Evaluation of the Minipubertal Profile in Term Newborns and Infants Within The First Six Months of Age

Lucaccioni Laura , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: The activation of the hypothalamus-pituitary-gonadal (HPG) axis during the first months both in males(M) and females(F) is named as minipuberty. Urinary gonadotropins (uGn) represent an unexpensive and non-invasive method of assessing pubertal development and they have recently been used also for studying minipuberty.Aims of the study are: 1) to describe the urinary hormonal pattern (uLH, uFSH, testosterone – uT, oestra...

hrp0095p1-350 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Phenotypic characteristics of a cohort of patients with Septo-Optic Dysplasia followed in a Tertiary Centre.

Ardila Santos Sandra , Ciaccio Marta , Isabel Di Palma Maria

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0095p1-352 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Random Luteinizing Hormone Concentrations for Monitoring Central Precocious Treatment Efficacy

Zeitler Philip , M. Boldt-Houle Deborah , N. Atkinson Stuart

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

hrp0095p1-353 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A novel missense variant in the gene encoding Fatty Acid Synthase (FASN) associated with a unique multi-system disorder including hypopituitarism and hypoparathyroidism

Gregory Louise , Eaton Simon , Krywawych Stephen , Rahman Shamima , Dattani Mehul

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

hrp0095p1-354 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Single centre experience of using 6 monthly GnRH analogues in the paediatric population

Apperley Louise , Dharmaraj Poonam , Blair Joanne , Ramakrishnan Renuka , Das Urmi , Didi Mohammed , Laing Peter , Yung Zoe , Cassidy Kelly , Blundell Pauline , Jarvis Charlotte , Parkinson Jennifer , Senniappan Senthil

Background: Mounting evidence points to an association between increased glucocorticoid (GC) action and weight gain. However, the response to GCs is not only determined by GC serum concentrations, but also by individual differences in tissue-specific sensitivity, influenced by genetic and acquired (e.g. disease-related) factors. The extent to which differences in GC sensitivity may influence development of (abdominal) obesity, or vice versa, is poorly understo...

hrp0095p1-355 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Serum Ghrelin and Neuropeptide Y Concentrations and Their Relationship with Gonadotropins and Anthropometric Parameters in Girls with Idiopathic CEntral Precocious Puberty, Premature Thelarche and Premature Adrenarche

İzel Bizbirlik Zeynep , Kilic Sümeyra , Angin Ahmet , ERSOY Betül

Orexigenic molecules such as ghrelin and neuropeptide Y (NPY) can contribute puberty as directly or indirectly. Our aim is to investigate the changes in the levels of orexigenic peptides ghrelin and neuropeptide Y at the onset of puberty in girls with idiopathic central precocious puberty (ICPP), premature thelarche (PT) and premature adrenarche (PA), and to determine their relationship with gonadotropins and anthropometric parameters.Subjects an...

hrp0095p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of The Arginine-Stimulated Copeptin Test in Polyuric Syndrome in Paediatrics. Experience in Three Patients

Gonzalez-Llorens Nuria , Biagetti Biagetti Betina , Mogas Viñals Eduard , Puerto Carranza Elsa , Tomasini Rosangela , Campos Martorell Ariadna , Yeste Fernandez Diego , Clemente Leon Maria

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

hrp0095p1-357 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The Prolactin (PRL) – Growth Hormone (GH) Relationship during Growth Hormone Stimulation Tests

Laron Zvi , Silbergeld Avivah , Barazani Chen , Lilos Pearl

Background: Despite many similarities between the structure, receptors and proliferative and growth promoting actions, the interrelationship between PRL and GH in clinical conditions has received little attention.Aim: To determine the PRL response to GH stimulation tests.Subjects: Prepubertal and early pubertal boys (n=581) and girls (n=502) with short stature.</p...

hrp0095p1-358 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pathogenic and Low-Frequency genetic determinants in children with Central Precocious Puberty

Fanis Pavlos , Toumba Meropi , A Tanteles George , Iasonides Michalis , C Nicolaides Nicolas , Nicolaou Stella , Kyriakou Andreas , Neocleous Vassos , A Phylactou Leonidas , Skordis Nicos

Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height as well as psychological consequences. So far only a limited number of genetic determinants have been associated with the pathogenesis in children with CPP. In this original research, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were i...

hrp0095p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Primary Granulomatous Hypophysitis with Panhypopituitarism, presenting as Aseptic Meningitis in a 14-year-old boy

Stern Eve , R Cohen Zvi , Shrot Shay , Greenberg Gahl , Gruber Noah , Modan-Moses Dalit , Pinhas-Hamiel Orit

Background: Hypophysitis is an uncommon inflammatory disorder of the pituitary gland and is classified both clinically (Primary vs secondary) and histologically (lymphocytic, granulomatous or xanthomatous). Primary hypophysitis is exceptionally rare in the paediatric population with only a few cases reported, the majority being Lymphocytic Hypophysitis.Case Report: We present the case of a previously healthy 14-year-old ...

hrp0095p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Somatostin analogs in a 15 year old boy with gigantism

Hernandez Claudia , Rodriguez Saa Magdalena , Fernandez Ivana , Figurelli Silvina , Daly Adrian , Guitelman Mirta

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

hrp0095p1-361 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Blue Light Exposure and Exposure Duration Effects on Rats' Puberty Process

Kılınç Uğurlu Aylin , Bideci Aysun , Mürşide Demirel Ayşe , Take Kaplanoğlu Gülnur , Dayanır Duygu , Gülbahar Özlem , Saadet Deveci Bulut Tuba , Döğer Esra , Orhun Çamurdan M.

Introduction: In the last 10 years, blue light (BL) sources such as tablets and phones has increased in every age group. Especially due to the Covid-19 pandemic, screen exposure has also increased in childhood. However, the effects of BL exposure in the puberty process aren’t clear. We aimed to examine the effect of BL exposure and exposure time on pubertyMethods: Immature eighteen 21-day-old female Sprague Dawley ...

hrp0095p1-362 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Negative impact of brain tumors on the neurocognitive functions of childhood cancer survivors

Mavrea Kalliopi , Katsibardi Aikaterini , Roka Kleoniki , Pons Roser , Antoniou Alexandros-Stamatios , Kanaka-Gantenbein Christina , Kattamis Antonis , Bacopoulou Flora

Introduction – Scope: Childhood cancer has an impact on the neurocognitive functions of growing children and adolescents. The aim of this study, which is the first of its kind in Greece, was to examine the differences in neurocognitive abilities between children and adolescents survivors of brain tumors (BT), and survivors of other types of cancer.Method: Study participants were cancer survivors aged 7 to 15 years,...

hrp0095p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Medium-and long-term follow-up observation of the efficacy and safety of GnRHa in the treatment of five cases of central precocious puberty caused by hypothalamic hamartoma

Huang Siqi , Meng Zhe , Liu Zulin , Zhang Lina , Hou Lele , Ou Hui , Liang Liyang

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

hrp0095p1-364 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pneumonia as the first manifestation of pediatric pulmonary carcinoid tumor

Oprescu Raluca , Cima Luminita , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Fica Simona

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

hrp0095p1-365 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Etiology and Clinical Features in Childhood Panhypopituitarism

Döğer Esra , Öner Ganimet , Bideci Aysun

Introduction: Panhypopituitarism is a deficiency of two or more pituitary hormones. Etiological causes of panhypopituitarism include pituitary developmental disorders, traumatic damage, inflammatory and neoplastic diseases affecting the pituitary, and vascular disorders. In this very rare condition, symptoms and signs related to anterior and posterior pituitary hormone deficiency can also be seen, as well as symptoms and findings related to etiological factors...

hrp0095p1-366 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Hemorrhagic pituitary apoplexy due to pituitary adenoma: description of two cases in two adolescent males

Ciccone Sara , Vestrucci Benedetta , Lia Cataldi Maria , Balestrieri Antonio , Ruggiero Maria , Grandone Anna

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...

hrp0095p1-542 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Manifestation and Treatment Outcomes of Pheochromocytoma and Paraganglioma in Children and Adolescents : A 26-year Single- Center Experience

Young Bae Ga , Kim Min-Sun , Noh Eu-Seon , won Park Sung , Yoon Cho Sung , Jin Dong-Kyu

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.Methods: Korean patients diagnosed with PCC and PGL before the age of 2...

hrp0095p1-543 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Klotho response to treatment with GnRH agonist in children with central precocious puberty

Seo Yoon Jong , Bit Gyeol Kim , Tae Hwang Il

Background: Klotho is an anti-aging protein acting as a circulating hormone. Major physiologic activities attributed to klotho include regulation of phosphate and calcium homeostasis, aging, adipogenesis, and glucose metabolism. Pubertal children had higher klotho than prepubertal. Insulin like growth factor-1 (IGF-1) directly promotes klotho shedding. Klotho levels significantly correlated with IGF-1 standard deviation scores (SDS).<str...

hrp0095p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Long term effects of continuous subcutaneous infusion of recombinant LH and FSH during infancy on testicular function in congenital hypogonadotropic hypogonadism.

Sophie Lambert Anne , Avril Tristan , Teinturier Cecile , Rothenbuhler Anya , Linglart Agnes , Bouvattier Claire

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

hrp0095p1-546 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years

Guran Tulay , Alir Fahriye , Taha Arslan Yusuf , Molla Giasim , Sahin Berk , Emir Sayar Mehmet , Atay Zeynep , Helvacioglu Didem , Gurpinar Tosun Busra , Haliloglu Belma , Turan Serap , Hidiroglu Seyhan , Bereket Abdullah

Background: Menarche is the endpoint of a complex sequence of maturational events but is the unique marker of female puberty. Timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and/or environmental factors are important.Objective: To assess the trend in age at menarche (AAM) in Istanbul over the last 12 years, and compare the patterns according to socioeconomic status (SES), ...

hrp0095p1-547 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Project to improve paediatric post-neurosurgical fluid management and to reduce the risks associated with Diabetes Insipidus (DI), Syndrome of Inappropriate ADH (SIADH) and Cerebral Salt Wasting (CSW).

Miller-Molloy Felix , Saxena Shreya , Bowen Philippa , Fellows Greg , Crowne Liz

Background: Complex fluid balance problems are well established post-neurosurgery and traumatic brain injury (TBI). The triple-phase response requires fluid management strategies reactive to urine output as patients shift between DI and SIADH. Prevalence of CSW is controversial; but ensuring sodium homeostasis is central to safe fluid management. To improve clinical care for these complex patients an audit of existing institutional guidelines was undertaken. N...

hrp0095p1-548 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Legal degree of disability in childhood-craniopharyngioma survivors during long-term follow-up: Results of the HIT-ENDO study

Boekhoff Svenja , Eveslage Maria , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

hrp0095p1-549 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Genetic causes of combined pituitary hormone deficiency

Jalilova Arzu , Ece Solmaz Aslı , Ata Aysun , Atik Tahir , Eraslan Cenk , Özen Samim , Gökşen Damla , Darcan Şükran

Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.<...

hrp0095p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical description of ten paediatric patients with rapid-onset obesity and clinical signs of ROHHAD-NET Syndrome

Aziz Mariana , Leske Vivian , Caminiti Carolina , Armeno Marisa , Ciaccio Marta , Gil Silvia

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

hrp0095p1-551 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Impact of the COVID 19 pandemic on the incidence of precocious puberty

Trouvin Marie-Agathe , Thomas-Teinturier Cécile , Linglart Agnès

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

hrp0095p1-552 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height in children with central precocious puberty – a retrospective study

Knific Taja , Lazarevič Melisa , Žibert Janez , Obolnar Nika , Aleksovska Nataša , Šuput Omladič Jasna , Battelino Tadej , Avbelj Stefanija Magdalena

Background: Central precocious puberty (CPP) is a premature activation of the hypothalamic-pituitary-gonadal axis. One of its negative effects is lower final adult height (FAH) due to premature epiphyseal closure. GnRH analogues act by desensitizing GnRH receptors and stopping the progression of puberty and prolonging growth period.Objectives: We aimed to evaluate the effect of the GnRH analogue on FAH and identify facto...

hrp0095p1-553 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of the Frequency of Multiple Hormone Deficiency and Long-Term Data in Patients with Craniopharyngioma

Gul Balki Hanife , Evin Ferda , Eraslan Cenk , Barutcuoglu Burcu , Bolat Elif , Ozen Samim , Goksen Damla , Darcan Sukran

Introduction: Craniopharyngiomas can lead to pituitary insufficiency and long-term endocrine complications due to the location, invasive character and risk of recurrence, besides they known as histologically benign.Aim: In this study, we aimed to evaluate the demographic, clinical features, endocrinological problems and follow-up findings in patient with craniopharyngioma in childhood.Metho...

hrp0095p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Oligogenic Inheritance May Explain The Phenotypic Variability and Incomplete Penetrance of Deleterious GL1I2 Variants in Congenital Hypopituitarism

Javier Rodríguez-Contreras Francisco , Ros-Pérez Purificación , Amalia García de Santiago Fe , Regueras-Santos Laura , Ruiz-Cano Rafael , Vallespín Elena , Del Pozo Ángela , Solís Mario , Elise Heath Karen , González-Casado Isabel , Campos-Barros Ángel

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

hrp0095p1-555 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Management Options for Adolescents with Abnormal Uterine Bleeding, according to their Demographic, Clinical and Laboratory Characteristics.

Keidar Noa , Smorgick Noam , Rachmiel Marianna

Background: Abnormal uterine bleeding is a common complaint among adolescents, however, there are no evidence-based guidelines for their treatment, and there is a paucity of outcome data available.Objectives: To describe the characteristics of adolescents with menstrual abnormalities and to describe management protocol outcomes.Methods: This is a retrospective study, based on infor...

hrp0095p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Surprisingly high frequency of pituitary stalk thickening in pediatric patients during COVID-19 pandemic in Chile.

Zepeda Diego , Peña Fernanda , Pablo Fernandez Jose , Okuma Cecilia , Naudy Cristian , J Guarda Francisco , Isabel Hernandez Maria

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

hrp0095p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary tuberculosis and hypothalamic obesity can be reversed by prolonged anti-tuberculosis treatment

Rochtus Anne , Lagae Lieven , Vermeulen Francois , de Zegher Francis

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

hrp0095p1-558 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Simultaneous quantification of 51 steroids in pediatric plasma and urine samples by LC–MS/MS

Wu Xiaoyu , Chen Yao , Li Xiaoqing , Xue Peng , Tang Jingyi , Yu Xiaodan , Zheng Liang , Wang Xiumin , Liu Shijian

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...

hrp0095p1-559 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Circulating MKRN3 levels in 5 CPP girls with MKRN3 gene mutation

Aiello Francesca , Palumbo Stefania , Cirillo Grazia , Luongo Caterina , Festa Adalgisa , Miraglia Del Giudice Emanuele , Grandone Anna

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

hrp0095p1-560 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Craniopharyngiomas in children: Hormonal profile and regional complications

Faraoun Khadra , Chentli Farida , Zoubir Safia , Midoun Nori

Background: The craniopharyngioma is a non-endocrine tumor, developed along the infundibulo-pituitary axis, from the third ventricle to sphenoid, histologically benign but locally invasive. It is a tumor with serious complications because of its location, its considerable potential for extension, its tendency to recur, and its adhesions to neighbouring structures. Our aim is to assess hormonal profile, neuro-ophthalmological and metabolic complications at the ...

hrp0095p1-561 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype

Palumbo Stefania , Cirillo Grazia , Sanchez Gianmaria , Fachin Alice , Baldo Francesco , Grazia Pellegrin Maria , Cassio Alessandra , Carolina Salerno Maria , Maghnie Mohamad , Felicia Faienza Maria , Wasniewska malgorzata , Fintini Danilo , Giacomozzi Claudio , Ciccone Sara , Miraglia Del Giudice Emanuele , Tornese Gianluca , Grandone Anna

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

hrp0095p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

DNA methylation status of MKRN3 in puberty: studies in Central Precocious Puberty girls and in pubertal mouse

Fanis Pavlos , Morrou Maria , Tomazou Marios , Toumba Meropi , Neocleous Vassos , Skordis Nicos , A Phylactou Leonidas

Background: Makorin RING finger protein 3 (MKRN3) is an important factor located on chromosome 15 in the imprinting Prader-Willi syndrome - associated region. Imprinted MKRN3 expressed in hypothalamic regions essential for puberty initiation and mutations have been found in patients with central precocious puberty (CPP). CPP caused by the early activation of pulsatile Gonadotropin releasing hormone (GnRH) secretion is clinically defined by the early maturation...

hrp0095p1-563 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Transient multiple pituitary hormone deficiency in critically ill pediatric patients

Dror Nitzan , Adam Dganit , Perl Liat , Eliakim Alon

Objective: Hospitalization in pediatric intensive care unit due to critical illness may be life threatening condition associated with severe acute physical stress and concomitant hormonal changes. Whether these changes represent an adaptive response or need to be treated is still not known.Methods: Pituitary hormones evaluation in four patients who were hospitalized in pediatric intensive care unit due to different sever...

hrp0095p1-564 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adenohypophyseal Hyperfuction in Childeren and Adolescents with McCune-Albright Syndrome

Xie Liu-lu , Li Yan-hong , Ma Hua-mei , Du Min-lian

Background: McCune-Albright Syndrome(MAS)is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

hrp0095p1-565 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adult Height is impaired in females with Medulloblastoma and hypogonadism: Impact of Pubertal Timing

Ferraro Paola , Casalini Emilio , Fava Daniela , Maghnie Mohamad , Patti Giuseppa , Di Iorgi Natascia

Introduction and Aim of the Study: girls with previous pediatric medulloblastoma (MB) are at risk of short stature and impairment of the hypothalamic pituitary gonadal function due to multiple risk factors;our aim was to assess the impact of hypergonadotropic hypogonadism (HH) on growth up to final height (FH) in females with or without growth hormone deficiency (GHD).Methods: anthropometrics (height-Ht-SDS, BMI-SDS, Tan...

hrp0095p1-566 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cystic Giant Prolactinoma in Childhood:

kinali ÇetİN Yasemin , Özgün Böcek Alp , DÖĞER Esra , POYRAZ Aylar , GÜÇLÜ PINARLI Faruk , SOLMAZ Nihan , BİDECİ Aysun , Orhun ÇAMURDAN Mahmut

Giant prolactinomas are rare tumours, with a prevalence of 0.5–4.4% among all pituitary tumours. In the literature, relatively few series describing their management and outcomes are available; moreover, only individual case reports of giant prolactinomas in children have been documented. We report a 10-year-old boy presented with painless progressive vision loss, insidious in onset, and bitemporal headache of six mounths duration. On physical examination; height: 134.2 ...