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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 3

Pituitary, Neuroendocrinology and Puberty

hrp0092p3-190 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Structural Pituitary Abnormality and Dysfunction Associated with Charge Syndrome

Karachaliou Feneli , Skarakis Nikitas , Mitrogiorgou Marina , Simatou Aristophania , Papaevangelou Vassiliki

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

hrp0092p3-191 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Hormone-Secreting Pituitary Adenomas in Children and Adolescents

Akulevich Natallia , Kuzmenkova Elena , Zhuravlev Vladimir , Solntsava Anzhalika

Background: Hormone-secreting pituitary adenomas in children and adolescents are rare.Methods: We report clinical course, management and outcome of 6 cases diagnoses in 2013-2019.Results: Patients (3M, 3F), aged 9,5 – 16,5 years at referral. In them, 3 ACTH-secreting adenomas (ACTHA) and 3 prolactinomas (PROLA) were recognized. The family history for endocrine tumors was negat...

hrp0092p3-192 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Rohhad Syndrome: Report of 2 Rare Cases From Crete-Greece

Smyrnaki Pinelopi , Chrysoulaki Maria , Daraki Vasiliki , Betsi Grigoria , Sfakiotaki Maria , Floroskoufi Paraskevi , Bouki Katerina , Kofteridis Diamandis , Kanaka-Gantenbein Christina , Xekouki Paraskevi

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...

hrp0092p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Pubertal Development Mode of Chinese Turner Syndrome Girls with Hormone Replacement Therapy

Guo Song , Zhang Jun , Chen Qiu , Li Yanhong , Ma Huamei , Chen Hongshan , Du Minlian

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

hrp0092p3-194 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Coincidental Central Precocious Puberty and Wilms Tumor

Kasongo Laura , Forget Patricia , Nicolescu Ramona

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

hrp0092p3-195 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Changes of Serum 25OHD Levels in Girls with Different Types of Central Precocious Puberty and Clinical Significance

Xu Liya , Li Pin , Gong Yan , Guo Sheng

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...

hrp0092p3-196 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Precocious Pseudo-Puberty Presenting with Bilateral Ovarian Involvement and Progressing to Juvenile Granulosa Cell Tumor in a 2-Year-Old Girl

Barakizou Hager , Donaldson Malcolm , Huma Zilla , Amary Fernanda , Gannouni Souha

Background: Feminising preocious pseudo-puberty in McCune Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT) arises from bilateral and unilateral estradiol hypersecretion respectively. GNAS mutations have been described in some cases of JGCT as well causing MAS.Aim: To describe a case in which MAS was evoked initially, but then progressed to JGCTCase: A girl aged 2 y...

hrp0092p3-197 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Precocious Puberty in a boy with Prader-Willi Syndromeduring Growth Hormone Replacement Therapy

LU WEI , Zheng Zhangqian , Ni Jinwen , Li Xiaojing , Xi Li , Luo Feihong

Background: Prader-Willi syndrome is a genetic disorder characterized by obesity, short statue, hypotonia and hypogonadism. Delayed or incomplete puberty are usually found in PWS, whereas central precocious puberty is very rare.Objective: This study aimed to report the case of a boy with PWS who was diagnosed with precocious puberty during growth hormone replacement therapy.Methods...

hrp0092p3-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Rare Cause of Hypogonadotropic Hypogonadism: FGFR1Mutation

Mert Erbaş İbrahim , Paketçi Ahu , Acar Sezer , Kotan Damla , Demir Korcan , Abaci Ayhan , Böber Ece

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

hrp0092p3-199 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Prolactinomas in a Pediatric Population

de Beldjenna Liliana Mejia , Vanegas Sara , Audrey Matallana , Siuffi Mirey

Introduction: Prolactinoma is the most frequent pituitary tumor (40 %) in children and adolescents is more common in females, sporadic and benign. It is classified into microprolactinoma (< 1.0 cm) and macroprolactinoma (>1.0 cm). In girls it presents clinically as amenorrhea and galactorrhea and occasionally as increased intracranial pressure. Management consist of medications and surgery.Objectives: To char...

hrp0092p3-200 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Extreme Short Stature and Neurological Impairment in a 17-Year-Old Male with Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Majdoub Hussein , Amselem Serge , Bercovich Dani , Rath Shoshana , Tenenbaum-Rakover Yardena

Introduction: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, about 26 mutations have been identified in POU1F1.<...

hrp0092p3-201 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Pituitary Stem Interruption Syndrome: A Neonatal Pathology not to be Ignored

Ould Mohand Ouamer , Fernane Leila , Sebar Khadidja , Lebane Djamil

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.<p cla...

hrp0092p3-202 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case Of Syndromic Hypopituitarism

Kaygusuz Sare Betul , Arslan Ateş Esra , Kirkgöz Tarik , Eltan Mehmet , Abali Zehra Yavas , Helvacioğlu Didem , Seven Menevse Tuba , Tosun Busra Gurpinar , Tutar Engin , Volkan Burcu , Tuney Davut , Turan Serap , Bereket Abdullah , Guran Tulay

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

hrp0092p3-203 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Anapylaxis Secondary to Gonadotrophin Releasing Hormone Agonist used for Precocious Puberty, Two Case Reports

Al Shaikh Hala

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...

hrp0092p3-204 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Diabetes Insipidus in Children with Pituitary Stalk Thickening in Two Cases

Sun Manqing , Ma Xiaoyu , Wang Wei , Ni Jihong , Dong Zhiya , Lu Wenli , Xiao Yuan , Wang Defen

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

hrp0092p3-205 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: A Single Centre Experience

Gallo Dario , Partenope Cristina , Pajno Roberta , Pitea Marco , Weber Giovanna , Barera Graziano , Pozzobon Gabriella Cinzia

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

hrp0092p3-206 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Cause of Hypopituitarism: A Niemann Pick Disease

Safi Wajdi , Kacem Faten Hadj , Naifar Manel , Kallel Faten , Ayadi Fatma , Feki Mouna Mnif , Abid Mohamed

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

hrp0092p3-207 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Precocious Puberty and Primary Hypothyroidism in a 6 Years and 10 Months Girl with Pituitary Macro Adenoma and Dextral Ovarian Cyst

Artati Ratna

Background: Precocious puberty associated with profound hypothyroidism is a rare condition. It is usually characterized by breast development, vaginal bleeding, and lack of pubic hair. Multi cystic ovaries in profound hypothyroid patients with precocious puberty have been rarely described.Case Presentation Summary: A 6 year and 10 month old girl was referred to Wahidin Hospital with precocious puberty. The girl was admit...

hrp0092p3-208 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Early Predictors of Serum IGF-1, DHEAS, AMH and BMP-6 in Rapidly Progressive Puberty Girls

Chen LinQi , Zhang Dandan , Wang Xiaoyan , Xie Rongrong , Wu Haiying

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

hrp0092p3-209 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Pituitary Hyperplasia as a Complication of Severe Hypothyroidism due to Hashimoto's Thyroiditis Could Impair Pituitary Function

Corica Domenico , Granata Francesca , Galletta Karol , Wasniewska Malgorzata

Introduction: Long-standing primary hypothyroidism is an unusual cause of pituitary hyperplasia (PH) in children, sometimes difficult to distinguish on CT or MRI from primary pituitary tumors. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone (TRH) and subsequent TSH-releasing cells hyperplasia in the anterior pituitary. Levothyroxine replacement therapy has been shown to usually determine regression of PH.<p class="abst...

hrp0092p3-210 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Homozygosity for Proopiomelanocortin (POMC) Mutation in a Palestininan Child

Abu-Libdeh Abdulsalam , Abu-Libdeh Bassam

Background: Congenital Proopiomelanocortin deficiency (POMC) is a rare autosomal recessive disorder characterized by the association of adrenal insufficiency, early onset obesity, hyperphagia and altered skin & hair pigmentation. POMC is a complex propeptide encoding a range of melanocortin peptides that are released by tissue-specific proteolytic processing. These peptides have important roles in a range of functions such as skin pigmentation and the cont...

hrp0092p3-211 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Peculiarities of Clinical Options for Delaying Sexual Aging in Boys-Adolescents

Kosovtsova Hanna

Delayed puberty (DP) in boys is considered the most common hypoandrogenia of puberty. It should be noted that DP adversely affects physical development, body formation and the health status of adolescents. The heterogeneity of the population of adolescents with DP has led to a differentiated approach and the allocation of the following three clinical options (CO) of DP: 1 - DP, accompanied by growth retardation; 2 - DP without significant deviations in physical development; 3 ...

hrp0092p3-212 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Two Separate Pathologies (Coeliac Disease and Central Precocious Puberty) Associated with Catch-Up Growth in the Case of a Child Born Small for Gestational Age (SGA)

Lim Sharon

Case: MMW was born at 39 weeks by elective caesarian section because of placenta praevia with a birth weight of 2.32kg.She was known to dietetics and medical services because of failure to thrive and short stature (BMI SDS -3.32, Height SDS -2.21). Due to chronic upper airways obstruction, she had a tonsillectomy at aged 2.5 yrs. Following this, appetite and weight improved (BMI SDS -1.3) but abdominal pains prompted blood investigations which revealed positiv...

hrp0092p3-213 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Mitochondrial Encephalomyopathy with Acidosis and Stroke-Like Episodes in A Vietnamese Child: Clinical, Radiological and Molecular Genetic Analysis

Minh Nguyen Khoa Binh , Thuy Hoang Thi Diem , Uyen Truong Thi Phuong

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures ...

hrp0092p3-214 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Precocious Puberty in a 2 Year-Old with No Sinister Cause

Lim Sharon

Background: The causes of most cases in girls with central precocious puberty is idiopathic, and tend to be older compared with neurogenic causes. When confronted with a very young child with sexual precosity, full endocrine work up is necessary and there is no doubt for the need to treat.Case: SG presented at the age of 2.6 years with thelarche and pubarche for one month. As her mother is tall (175cm, 97th centile), she...

hrp0092p3-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

Eroğlu Filibeli Berna , Ayranci İlkay , Manyas Hayrullah , Kirbiyik Özgür , Dündar Bumin , Çatli Gönül

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

hrp0092p3-216 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Family Central Early Puberty about Three Sisters

safi wajdi , Hadj Kacem Faten , Ben Mrad Fatma , El Arbi Kawthar , Gargouri Imene , Rekik nabila , Charfi Nadia , Mnif Feki Mouna , Abid Mohamed

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...