Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Poster Category 2

Pituitary, Neuroendocrinology and Puberty

hrp0097p2-23 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Rani Rai Versha , Rathore Heeranand , Riaz Maira , Muhammad Laghari Taj , Khoso Zubair , Noor Ibrahim Mohsina

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

hrp0097p2-24 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Familial growth hormone deficiency associated with a PROKR2 gene variant

El Hattab Ayman , Ehtisham Sarah

A 16 year old boy initially presented with short stature at age 6, with height <0.4th centile (HSDS -2.78). Bone age was 1.9 years delayed, and growth hormone deficiency was diagnosed after 2 stimulation tests. The rest of his pituitary function was normal. He never had pituitary imaging. Growth hormone treatment was started, and he had an excellent growth response with HSDS improving to -1.57 by 10 years. The growth hormone treatment was discontinued when the family reloca...

hrp0097p2-25 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Coexistence of Pituitary Stalk Interruption Syndrome, Sacrococcygeal Teratoma and Horseshoe Kidney

ÖzdemİR Uslu Zülal , Akin Agah , Tuğçe Tunca Küçükal&idot; Elif , Muratoğlu Şah&idot;n Nursel , Çet&idot;nkaya Semra

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...

hrp0097p2-26 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Craniopharyngioma-related hypothalamic obesity: efficacy of bariatric surgery in two adolescents

Polenzani Ilaria , Ferri Chiara , Finamore Martina , Palmoni Monica , Mascaro Rossella , Magnacavallo Annalia , Rizzi Alessia , Sardella Dario , Barera Graziano , Pozzobon Gabriella , Meroni Silvia , Bucolo Carmen

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

hrp0097p2-27 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Use of the arginine-stimulated copeptin test in polyuric syndrome in paediatrics. Experience in three patients

González Llorens Núria , Puerto Carranza Elsa , Mogas Viñals Eduard , Campos Martorell Ariadna , Yeste Fernández Diego , Clemente León María

Introduction: Differential diagnosis of partial arginine vasopressin deficiency (P-AVPD) and primary polydipsia (PP) can be challenging. Arginine-stimulated copeptin concentrations have been used to differentiate between arginine vasopressin deficiency (AVPD) and PP, setting a copeptin value of 3.8pmol/L at 60 min as a cut-off point in adults.Objective: To evaluate the efficacy and safety of the arginine-stimulated test ...

hrp0097p2-28 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Hipothalamic syndrome in craniopharyngioma: pre and post-surgery

Coelho Isabel , Francisco Branco Caetano , Iraneta Amets , Conceição Carla , Lopes Lurdes , Galhardo Júlia

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

hrp0097p2-35 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A case of congenital central hypothyroidism with complete growth hormone deficiency caused by a novel nonsense mutation in the IGSF1 gene.

Miyako Kenichi , Furuzono Miwa , Tsukada Hiroko , Makimura Mika , Shibata Nao , Nagasaki Keisuke

The Ig superfamily member 1 (IGSF1) gene encodes a plasma membrane immunoglobulin superfamily glycoprotein, that is highly expressed in Rathke’s pouch and the adult pituitary gland and testis. It is now known that a loss-of-function mutation in this gene causes X-linked syndromic disorders including congenital central hypothyroidism, macroorchidism, prolactin deficiency, partial and transient growth hormone (GH) deficiency, disharmonious pubertal develo...

hrp0097p2-36 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Unusual presentation of pheochromocytoma (PCC) and paraganglioma (PGL) in two sisters with von Hippel Lindau disease (VHL)

Vieites Ana , J. Benítez Amanda , Eugenia Rodríguez María , Bignon Horacio , Sansó Gabriela

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

hrp0097p2-37 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A male case of peripheral precocious puberty caused by testotoxicosis

Coco Roberto , Pepe Giorgia , Li Pomi Alessandra , Corica Domenico , Lugarà Cecilia , Valenzise Mariella , Wasniewska Malgorzata , Aversa Tommaso

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

hrp0097p2-38 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Combined pituitary hormone deficiency caused by a missense de novo variant in FGFR1

Cavallaro Paola , Francesca Messina Maria , Aversa Tommaso , Pepe Giorgia , Wasniewska Malgorzata , Corica Domenico

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

hrp0097p2-39 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A Case Report of a 10-Year-Old Girl with Pituitary Abscess

Yoshida Aya , Oyachi Maki , Yamaguchi Naoya , Suzuki Atsushi , Aoyama Kohei

Background: Pituitary abscess is a rare disorder, representing less than 1% of pituitary lesions. Preoperative diagnosis is often difficult due to non-specific symptoms and image findings.Case Report: Here, we report the case of a 10-year-old girl with a pituitary abscess. She presented with polyuria and polydipsia and headache for the past year. Magnetic resonance imaging revealed polycystic lesion in the sella turcica ...

hrp0097p2-91 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Peripheral Precocious Puberty due to Exogenous Estradiol in a 3-Year-Old Girl: A Case Report

Bruun Rasmussen Astrid , Højgaard Astrid , Nymark Hansen Rikke , Rønholt Christensen Ann-Margrethe

Introduction: Transdermal estrogen replacement therapy in girls with hypogonadism is well known for induction of the puberty. Sexual development due to exogenous exposure for sex steroids in food, environment or medication is known, but is rare and sparsely reported. We present a case of peripheral precocious puberty in a 3-year-old girl due to inadvertent exposure to an estradiol gel used by her father as gender affirming hormone therapy (GAHT).<p class="...

hrp0097p2-92 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A case of pituitary stalk interruption syndrome of normal height with chronic fatigue and delayed puberty

Choi Yunha , Kyung Jung Mo , Yoo Han-Wook

Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical defect with endocrine abnormalities. The triad of this syndrome comprises thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and hypoplastic or aplastic anterior pituitary lobe. We diagnosed a 16-year-old female patient with combined pituitary hormone deficiency (CPHD) due to PSIS. The patient complained of chronic fatigue and was Tanner stage 1 with no signs of puberty. ...

hrp0097p2-93 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diabetes insipidous and non langerhans histiocitosis, a challenging diagnosis

Polenzani Ilaria , FInamore Martina , Ferri Chiara , Palmoni Monica , Mascaro Rossella , Magnacavallo Annalia , Rizzi Alessia , Barera Graziano , Pozzobon Gabriella , Bucolo Carmen , Meroni Silvia

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

hrp0097p2-94 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diagnostic and predictive value of brain magnetic resonance imaging in Algerian children with growth hormone deficiency

Kherra Sakina , Boutaghane Noureddine , Bellouti Sihem , Sifour Latifa , Sahli Hassiba , Djermane Adel , Yasmine Ouarezki , Ladjouze Asmahane , Talbi Fatiha , Bendakir Imane , Chikh Amina

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

hrp0097p2-95 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Short-term impact of therapy with GNRH analogues on the growth of female children with central precocious puberty: a retrospective study of the last 20 years

Luísa de Carvalho Ana , Carvalho Adriana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

hrp0097p2-145 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical observation of post-menarche in idiopathic central precocious puberty or rapidly progressive puberty treated by GnRHa and GnRHa+rhGH

Chen PingPing , Chen Linqi , Wu Haiying

Objective: To investigate the clinical efficacy of GnRHa in the treatment of girls with post-menarche in ICPP or rapidly progressive puberty(RPP). To analyze the effect of GnRHa combined with rhGH on growth velocity (GV) and predicted adult height (PAH) in the process of GnRHa treatment with too low growth velocity.Methods: Retrospective analysis of the clinical data of 55 post-menarche ICPP/RPP girls withi...

hrp0097p2-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Some descriptive characteristics of hypopituitarism in children and adolescents in Armenia

Navasardyan Lusine , Zohrabyan Naira , Hakobyan Sona , Manvelyan Diana , Markosyan Renata , Bayburdyan Gayane , Arakelyan Lusine , Kalantaryan Lusine , Aghajanova Elena

Background: Hypopituitarism is a rare condition characterized by the insufficiency of 2 and more hormones produced by anterior pituitary gland. The major causes of hypopituitarism are brain tumors located near or in the pituitary gland and/or hypothalamus, cranial radiation, chemo- or surgical therapy, cranial traumas, neuroinfections, autoimmune hypophysitis (immune-mediated inflammation of pituitary gland) etc. Brain tumors are the second most frequent type ...

hrp0097p2-147 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Posterior Sellar Spine - an unusual cause of precocious puberty

Samad Punekar Abdul , Shehab Mostafa , Ehtisham Sarah

A 7 year old girl presented with breast development, mood changes and rapid growth spurt from 6.5 years. Clinically she was tall for her family and had Tanner stage 2 breast development and pubic hair. Bone age was 3 years advanced and pelvic ultrasound demonstrated globular anteverted uterus with endometrial lining and enlargement of the ovaries with follicles. LHRH test confirmed central precocious puberty with peak LH 44mIU/ml and FSH 19mIU/ml, with baseline estradiol of 92...

hrp0097p2-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diagnostic dilemma in an adolescent boy with hypopituitarism – pituitary apoplexy or Rathke cleft cyst?

La Grasta Sabolić Lavinia , Kovačević Ana , Požgaj Šepec Marija , Smoljan Mia

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

hrp0097p2-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Growth arrest due to multiple hormonal deficiencies caused by hemorrhagic apoplex of a Rathke cleft cyst - a rare difefrential diagnosis of acquired childhood pituitary insufficiency

Hofmann Michaela , Theresa Schmook Maria , Azizi Amedeo , Hartmann Gabriele

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...

hrp0097p2-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Precocious puberty: let's talk about the north of Algeria!!

Rouabah Nadira , Rouabah Hamza , Manaa Ardjouna , Bioud Belkacem

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

hrp0097p2-165 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Peripheral precocious puberty in a hospital in eastern Algeria

Rouabah Nadira , Rouabah Hamza , Mebarki Malika , Bioud Belkacem

Introduction: Peripheral or gonadotropin-independent PP is due to the production of sex steroids by gonadal or adrenal tissues independently of gonadotropins (which are usually suppressed). Peripheral PP may result from gonadal, adrenal or hCG-producing tumors (in boys) and exposure to exogenous sex steroids. Peripheral PP may rarely lead to activation of pulsatile GnRH secretion and PPC due to prolonged priming of the HPG axis. The pattern of pubertal develop...

hrp0097p2-197 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Precocious thelarche and menarche in 5 years old girl – McCune - Albright syndrome – our experience.

Vitariusova Eva , Kostalova Ludmila , Pribilincova Zuzana , Niznanska Zuzana , Wallenfelsova Eva , Podracka Ludmila

Introduction: McCune - Albright syndrome is rare genetic disorder characterized by periphereal precocious puberty, fibrous bone dysplasia and cafe au lait skin spots.Case: Almost 5 years old girl was sent to Endocrinological department due to precocious thelarche and menarche. At the time of first examination, patient had breast M 3 and large cafe au lait macule on the right tight, no pubic and axilar hair was present, n...

hrp0097p2-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Idiopathic diabetes insipidus: beyond the initial diagnosis

Puerto-Carranza Elsa , Campos Martorell Ariadna , Albaladejo-Moreno Raquel , Laguillo-Sala Gemma , Vazquez Elida , López-Bermejo Abel

Introduction: Diabetes insipidus (DI) is a rare disease in children. In most cases it is acquired and central in origin (CDI). The most frequent cause of acquired CDI is brain tumor and idiopathic forms represent between 20-50% of cases, depending on the series. Autoimmune hypophysitis is a rare cause of DI and is a presumptive diagnosis with a suggestive brain MRI and ACTH and TSH deficiencies as the most common hormonal involvement, although it can manifest ...

hrp0097p2-232 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diabetes insipidus in pediatric onset langerhans cell histiocytosis with excellent response to treatment.

Rani Rai Versha , Awais Rimsha , Rathore Heeranand , Noor Ibrahim Mohsina , Riaz Maira

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

hrp0097p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

McCune-Albright Syndrome: knowing how to think about it

Ould Mohand Ouamer , Drali Ouardia , Saadaoui Brahim , Mekki Azzedine

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.Case report: This is a ...

hrp0097p2-236 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Congenital Hypopituitarism: a pathology not to be ignored

Ould Mohand Ouamer , Drali Ouardia , Khelfat Farah , Mekki Azzedine

Introduction: Pituitary deficiency, or hypopituitarism, is defined by insufficient synthesis of one or more anterior pituitary hormones (growth hormone, TSH, ACTH, LHFSH, prolactin) associated or not with diabetes insipidus (ADH deficiency). In children it is more frequently congenital, due to abnormal pituitary development; it is then a rare disease with an estimated prevalence of between 1/16.000 and 1/150.000.Case report:</str...