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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Pituitary and Neuroendocrinology P2

hrp0086p2-p758 | Pituitary and Neuroendocrinology P2 | ESPE2016

Clinical Symptoms, Endocrine Dysfunction and Radiologic Findings in Children with Rathke’s Cleft Cyst

Jung Jo Eun , Jung Mo Kyung , Kwon Ah Reum , Kim Duk Hee , Chae Hyun Wook , Kim Ho-Seong

Background: Rathke’s cleft cyst (RCC) is a benign, sellar or suprasellar lesion arising from the remnants of Rathke’s pouch that have failed to disappear in the normal development of the embryo. Patients with RCCs are mostly asymptomatic but can also exhibit various symptoms related to pituitary insufficiency. With increasing interest on endocrinology disorders of children or adolescents, the prevalence of RCCs is also on the rise. However, the studies on children or...

hrp0086p2-p759 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Case of Central Precocious Puberty in a Patient with Prader-Willi Syndrome

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

hrp0086p2-p760 | Pituitary and Neuroendocrinology P2 | ESPE2016

Is Amh Level Diagnostic for Premature Telarche, Premature Adrenarche and Central Precocious Puberty?

Savas-Erdeve Senay , Sagsak Elif , Keskin Meliksah , Cetinkaya Semra , Aycan Zehra

Background: Antimüllerian hormone (AMH) is produced by granulosa cells surrounding follicles. There are limited studies about the change of AMH levels at the pubertal onset.Objective and hypotheses: The aim of this study was to identify whether AMH levels could be diagnostic for central precocious puberty (CPP), premature thelarche and premature adrenarche (PA) and to investigate the factors influencing AMH regulation.Method: ...

hrp0086p2-p761 | Pituitary and Neuroendocrinology P2 | ESPE2016

Paediatric Cushing Disease: One Patient’s Path to Cure

Yordanova Galina , Iotova Violeta , Zheleva Eleonora , Bachvarov Chavdar , Bocheva Yana , Galcheva Sonya , Enchev Yavor , Ivanov Krasimir , Kolev Nikola , Tonev Anton , Storr Helen

Background: Paediatric Cushing disease (CD) is rare but can be severe. Diagnosis and proper management are often delayed and the course of disease is unpredictable. Support from experts in the field is essential.Objective and hypotheses: We present a male patient, diagnosed with Cushing syndrome elsewhere more than two years after his initial signs and symptoms. For 6 months he underwent numerous investigations, which were inconclusive and was left untre...

hrp0086p2-p762 | Pituitary and Neuroendocrinology P2 | ESPE2016

Recovery of Hypothalamic Pituitary Function After Stalk Transection and Panhypopituitarism in an Adolescent

Zacharin Margaret

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...

hrp0086p2-p763 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Novel CHD7 Mutation in an Adolescent Presenting with Pubertal and Growth Delay

Antoniou Maria-Christina , Bouthors Therese , Xu Cheng , Phan-Hug Franziska , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Cassatella Daniele , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

hrp0086p2-p764 | Pituitary and Neuroendocrinology P2 | ESPE2016

Kallmann Syndrome Due to a Homozygous Missense c.217C>T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

Ozturk Mehmet Nuri , Demirbilek Huseyin , Kotan Leman Damla , Baysal Birsen , Ocal Murat , Topaloglu Ali Kemal

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

hrp0086p2-p765 | Pituitary and Neuroendocrinology P2 | ESPE2016

Symptomatic Rathke Cleft Cyst in Pediatric Patients – Clinical Presentations, Surgical Treatment and Postoperative Outcomes – An Analysis of 38 Cases

Prokop Monika , Moszczyńska Elżbieta , Bogusz Agnieszka , Daszkiewicz Paweł , Szalecki Mieczysław , Roszkowski Marcin

Background: Rathke cleft cysts are benign, epithelium-lined intrasellar and/or suprasellar cysts believed to originate from remnants of the Rathke pouch. Although its prevalence in adults is rather high, Rathke cleft cysts are rare in children. Often they are asymptomatic findings, however depending on their size and localization they can present with a wide spectrum of symptoms.Objective and hypotheses: The aim of the study was to analyse the symptoms a...

hrp0086p2-p766 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Craniopharyngioma: Report of Two Cases

Bogusz Agnieszka , Moszczynska Elzbieta , Szalecki Mieczyslaw

Introduction: Craniopharyngiomas are slow growing epithelial tumors located in the sellar or suprasellar region of the brain. Adamantinomatous subtype affects mainly children and accounts for 5–10% of all intracranial paediatric tumors. Diagnosed antenatal and neonatal craniopharyngiomas are very seldom, about 40 such cases have been detected to date. They are characterised by large size, progressive hydrocephalus and a poor prognosis.Aim: The aim o...

hrp0086p2-p767 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Hypopituitarism in a Patient with 18p- Syndrome

Bolmasova Anna , Melikian Maria , Degtyareva Anna

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

hrp0086p2-p768 | Pituitary and Neuroendocrinology P2 | ESPE2016

10 Years Review of Endocrine Diseases in Spanish Patients Diagnosed with Primary Brain Tumors in a Tertiary Hospital

Portillo Nancy , Gonzalez Usune , Rubio Raquel , Ariza Miguel Garcia , Grau Gema , Vela Amaia , Rodriguez Amaia , Astigarraga Itziar , Rica Itxaso

Background: Pediatric Central Nervous System (CNS) neoplasms are the most frequent solid tumors in children. Since the increase in survival, the patients are in high risk of developing long term sequelae. Endocrinological sequelae may be due to the oncological disease itself but usually derived from the treatment received, and they affect 20–50% of patients long-term. We aimed to review our experience from 2005 to 2015.Objective and hypotheses: Desc...

hrp0086p2-p769 | Pituitary and Neuroendocrinology P2 | ESPE2016

Novel Uses of Psychiatric Drugs to Treat Hypothalamic Obesity

Julian Maria Cristina Azcona San , Gomez-Cardenas Francisco Javier Aguilar , Falconi Jose Luis Leon , Elicegui Amaia Ochotorena , de las Heras Ana Navedo , Lamban Ana Catalan , Martin Patricia Sierrasesumaga , de Almiron Monica Prados Ruiz , Martin Eduardo Arnaus

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

hrp0086p2-p770 | Pituitary and Neuroendocrinology P2 | ESPE2016

Postoperative Water and Electrolyte Disorders and Affecting Factors in Children with Intracranial Tumors

Akbas Emıne Demet , Doger Esra , Ugurlu Aylın Kılınc , Bıdecı Aysun , Camurdan Orhun , Cınaz Peyamı

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...

hrp0086p2-p771 | Pituitary and Neuroendocrinology P2 | ESPE2016

Compound Heterozygosity for Two Novel POU1F1 Mutations in Siblings with Isolated Childhood Onset Growth Hormone Deficiency (CO-GHD)

Grace Mariana , Nagel Mato , Joyce Caroline , Morissey Rose , O'Connell Susan

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

hrp0086p2-p772 | Pituitary and Neuroendocrinology P2 | ESPE2016

Brain MRI in Evaluation of Endocrine Diseases of Childhood: Causal and Incidental Lesions

Selbonne Emilie , Martinerie Laetitia , Leger Juliane , Elmaleh Monique , Sebag Guy , Carel Jean-Claude

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...

hrp0086p2-p773 | Pituitary and Neuroendocrinology P2 | ESPE2016

Primary Thirst Defect is a Rare But Important Complication Following Surgery for Hypothalamic Hamartoma and Intractable Epilepsy

Giri Dinesh , Blair Jo , Das Urmi , Dharmaraj Poonam , Senniappan Senthil , Malluci Connor , Benedetta Pettorini , Pizer Barry , Burns Sasha , Didi Mohammed

Background: Diabetes insipidus (DI) is a well-recognized post neuro surgical complication arising after hypothalamic-pituitary surgery. DI occurring in the post-operative period can be transient happening within 24–48 hour of surgery, secondary to trauma to the connections between the magnocellular bodies and the nerve terminals in the posterior pituitary, or to axonal shock from disturbances in the vascular supply to the pituitary stalk and posterior pituitary.<p cla...

hrp0086p2-p774 | Pituitary and Neuroendocrinology P2 | ESPE2016

Insulin Sensitivity in Girls with Central Precocious Puberty at Diagnosis and at 6 Months of GnRH Analogue Treatment

Arcari Andrea , Freire Analia , Escobar Maria Eugenia , Ballerini Maria Gabriela , Ropelato Maria Gabriela , Bergada Ignacio , Gryngarten Mirta

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...

hrp0086p2-p775 | Pituitary and Neuroendocrinology P2 | ESPE2016

Effect of Gonadotropin Releasing Hormone Analogues (GnRHa) on Final Height in Girls with Borderline Early Puberty or Normal Physiological Puberty Depend on Bone Age Advancement and Predicted Height

Hizli Zeynep , Bas Firdevs , Poyrazoglu Sukran , Genens Mikail , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: Borderline precocious and normal-onset puberty can show slow or fast course. The fast development of pubertal signs can be resulted in decrease in final height (FH) via accelerated growth and bone maturation.Objective and hypotheses: To study the effectiveness of GnRHa in improving FH in girls with advanced bone age (BA) and decreased predicted height (PH) in borderline early or normal physiological puberty.Method: 135 ...

hrp0086p2-p776 | Pituitary and Neuroendocrinology P2 | ESPE2016

Central Nervous System Abnormalities on Brain Magnetic Resonance Imaging Among 200 Korean Girls with Central Precocious Puberty

Kim Shin-Hee , Ahn Moon Bae , Cho Won Kyoung , Cho Kyoung Soon , Park So Hyun , Jung Min Ho , Suh Byung-Kyu

Background: Central precocious puberty (CPP) may result from organic lesions, but it is most frequently of idiopathic origin in girls.Objective and hypotheses: The objective of the study was to identify central nervous system abnormalities in girls with CPP.Method: This retrospective study was performed in 3-tertiary care hospitals between 2005 and 2015. During this period, 200 girls with CPP performed brain magnetic resonance imag...

hrp0086p2-p777 | Pituitary and Neuroendocrinology P2 | ESPE2016

Impaired Growth Hormone Secretion Associated with Large Hypothalamic Hamartoma

Sukarova-Angelovska Elena , Kocova Mirjana , Angelkova Natalija , Joseva Jasminka

Background: Hypothalamic hamartomas (HH) are rare non-progressive brain tumor malformations that occur early during brain development. Most of the cases are sporadic and nonsyndromic. Variation in size and location of the hamartoma within the hypothalamic region is not always associated with the severity of the clinical presentation. A wide range of symptoms could occur - from nonsymptomatic to severely affected cases that include seizures (mostly gelastic), behavioral difficu...

hrp0086p2-p778 | Pituitary and Neuroendocrinology P2 | ESPE2016

Comparison of Triptorelin Versus Leuprolide in Treatment of Girls with Central Precocious Puberty

Yilmaz Gulay Can , Kara Cengiz , Bitkin Eda Celebi , Aydin Hasan Murat

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...

hrp0086p2-p779 | Pituitary and Neuroendocrinology P2 | ESPE2016

Central Precocious Puberty in a Female with Gonadal Dysgenesis and Bilateral Gonadoblastoma

Megna Paolo , Scalini Perla , Capirchio Laura , De Martino Maurizio , Losi Stefania , Stagi Stefano

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

hrp0086p2-p780 | Pituitary and Neuroendocrinology P2 | ESPE2016

Precocious Puberty: A Single Academic Center Experience

Huttunen Heta , Varimo Tero , Miettinen Paivi , Hero Matti , Raivio Taneli

Background: The frequency of makorin RING-finger protein 3 gene (MKRN3) mutations in Finnish patients with precocious puberty (PP) is not known. As a first step to investigate this, we describe the diagnoses underlying PP in a single academic center.Objective and hypotheses: To review the diagnoses in children who were presented with signs of PP (adrenarche excluded) at the Helsinki University Hospital, with a special emphasis on the identification of fa...

hrp0086p2-p781 | Pituitary and Neuroendocrinology P2 | ESPE2016

Does Pituitary Volume have the Diagnostic Value on Growth Hormone Deficiency and Prognostic value on the Response to Growth Hormone Therapy?

Yilmaz Seniha Kiremitci , Ovali Gulgun Yilmaz , Duzgun Fatih , Kizilay Deniz , Ersoy Betul

Background: Pituitary gland imaging is conventionally done after the diagnosis of growth hormone (GH) deficiency was established, to ascertain the cause of GH deficiency.Objective and hypotheses: We aimed to determine the differantial diagnostic value of pituitary volume (PV) on GH deficiency, and effect of PV on responses to GH therapy.Method: This retrospective study was conducted on 102 growth hormone deficient (GHD) patients (5...

hrp0086p2-p782 | Pituitary and Neuroendocrinology P2 | ESPE2016

Early Puberty; Diagnosis, Treatment and Prognosis

Misirli Ebru , Bideci Aysun , Doger Esra , Akbas Emine Demet , Akin Onur , Ugurlu Aylin Kilinc , Camurdan Orhun , Cinaz Peyami

The aim of this study was to evaluate the diagnosis at the first examination and last visit, etiology, prognosis, clinical properties of girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty for ten years and defining the effect of treatment on final height (FHt). In this single-center study, we included 1330 patients who were diagnosed during the years 2004–2014. History, anthropometric data, bone age (BA), hormones and pelvic ul...

hrp0086p2-p783 | Pituitary and Neuroendocrinology P2 | ESPE2016

Basal Levels of FSH and LH can be Helpfull in Diagnosis of Puberty Precocious?

Gul Ulku , Samur Bahadir , Tatlı Zeynep Uzan , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Background: Luteinizing hormone stimulating hormone (LHRH) test is the gold standard test in the diagnosis of puberty precocıous (PP). The basal levels of FSH (follicular stimulating hormone) and LH (luteinizing hormone) cannot be always reliable.Objective and hypotheses: To investigate the relation between the LHRH test and basal levels of FSH and LH.Method: Girls with puberty started before the age 8 are investigated. Eighty...

hrp0086p2-p784 | Pituitary and Neuroendocrinology P2 | ESPE2016

Body Mass Index and Body Fat Composition are Both Related to Central Precocious Puberty in Chinese Girls

Huang Ke , Fu Jun-fen , Dong Guan-ping

Background: Obesity in children and adolescents has become an increasing clinical and public health concern. It was reported that obesity is positively associated with sexual maturation in both boys and girls in China. However, the effect of obesity on pubertal development is incompletely elucidated.Objective and hypotheses: To evaluate the fat mass and body composition by dual-energy x-ray absorptiometry (DEXA) in Chinese precocious puberty girls, and t...

hrp0086p2-p785 | Pituitary and Neuroendocrinology P2 | ESPE2016

Hyperleptinemia in Obese and Non-Obese Children with Early Puberty

Jang Kyung-Mi , Moon Jung-Eun , Ko Cheol-Woo

Background: Leptin is mainly produced by adipocytes. In animal and human, it is a potnet anorectic and increases in obesity. Some reported that precocious puberty is prevelent in children with obesity.Objective and hypotheses: This study was done to see the changes of blood leptin levels in both obese and non-obese children with early puberty or precocious puberty.Method: Study patients consist of 325 children with early puberty or...

hrp0086p2-p786 | Pituitary and Neuroendocrinology P2 | ESPE2016

Association between Congenital Hypopituitarism and Agenesis of the Internal Carotid Artery: A Case Report

Cocca Alessandra , Carney Olivia , Hulse Tony

Background: The abnormalities of the Internal Carotid Artery (ICA) are very rare phenomenona and the agenesis, in particular, has an estimated incidence of 0,01% among the general population. It could also be associated with another rare condition: the congenital hypopituitarism.Objective and hypotheses: To describe a very rare case characterized by the association between congenital hypopituitarism and abnormalities of the internal carotid artery.<p...

hrp0086p2-p787 | Pituitary and Neuroendocrinology P2 | ESPE2016

Giant Macroprolactinoma in a Female Adolescent – Case Report

Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Rotariu Daniel , Poeata Ion , Leustean Letitia

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

hrp0086p2-p788 | Pituitary and Neuroendocrinology P2 | ESPE2016

Adenomas Pituitary in Children

Fedala Nora Soumeya , Haddam Ali El Mahdi , Meskine Djamila

Background: Pituitary adenomas are rare in children. Most of them are found in adolescents. Macroadenomas and secreting adenomas are the most common. They can be sporadic, familial, belong to tumor syndromes and be associated with distinct genetic defects.Objective and hypotheses: Report phenotypic and genotypic characteristics of pituitary adenomas in children.Method: Eight children with pituitary adenoma were identified in 20 yea...

hrp0086p2-p789 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Patient with Multiple Endocrine Neoplasia Type 1 Presented with Precocious Puberty

Akcan Nese , Mousa Umut , Sav Hasan , Bundak Ruveyde

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomally transmitted hyperplastic or neoplastic disorders of some endocrine and non-endocrine organs. Pituiatry tumors develop in 30–70% of patients with MEN1. Mean age at onset of MEN1 associated pituitary tumors is the 4th decade and its occurence before and during puberty is very rare. Although there are two case reports about MEN1 and delay puberty, early and rapidly progressive puberty with MEN1 has no r...

hrp0086p2-p790 | Pituitary and Neuroendocrinology P2 | ESPE2016

Precocious Puberty in a Girl With Prader Willi Syndrome

Papagianni Maria , Kosta Konstantina , Lialias Ioannis , Chatzakis Christos , Tsiroukidou Kiriaki , Tsanakas Ioannis

Background: Prader Willi Syndrome (PWS) is a rare genetic disorder with a wide range of symptoms manifestation. Main characteristics are hypotonia, growth retardation, feeding difficulties in neonatal period, increased appetite and obesity in childhood, delayed puberty or hypogonadism in adolescence. It is also associated with behavioral disturbances and impaired cognitive function. The genetic defect is located on the 15q11-13 chromosome.Objective and h...

hrp0086p2-p791 | Pituitary and Neuroendocrinology P2 | ESPE2016

Menstrualcharacteristics and Problems in 9–18 Years Old Turkish School Girls

Kendirci Mustafa , Yucel Gul , Gul Ulku

Background: The aim of this study is to determine menstruating girls’ sectional characteristics and the frequency of the menstrual problems.Method: The study was done in randomly selected primary, junior and high schools at Kayseri Province between December 2014–March 2015. After obtaining the permits adolescent girls in 9–18 age groups were included in the study. Following preliminary information, informed consent forms and questionnaires...

hrp0086p2-p792 | Pituitary and Neuroendocrinology P2 | ESPE2016

Haplo-insufficiency for LHX4 Alone does not Result in Hypopituitarism

Kurre Mala , Gevers Evelien

Background: Two LIM homeodomain transcription factors, Lhx3 and Lhx4, are critical in the development of the nervous system and pituitary gland in mice. Lhx4 null mice die shortly after birth and have abnormal pituitary gland development. Recently, the first human homozygous LHX4 mutation was described, resulting in congenital hypopituitarism and neonatal death. Heterozygous LHX4 variants have been described and are linked to hypopituitarism but have...

hrp0086p2-p793 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Nursing Perspective: Best Practices for Pubertal Suppression for Individuals with Central Precocious Puberty and Transgender

Pyra Eileen , Kirouac Nicole

Background: Through nursing collaboration within the Canadian Pediatric Endocrine Nurses (CPEN) network it has become evident that there are differences in practices across the country in the suppression of puberty.Objective and hypotheses: Exploration of these differences for pubertal suppression in Central Precocious Puberty (CPP) and Transgender (TG) youth coupled with a thorough search of current literature can inform future best pra...

hrp0086p2-p794 | Pituitary and Neuroendocrinology P2 | ESPE2016

An Unusual Association between Empty Sella and Central Precocious Puberty

Anzilotti Giulia , Losi Stefania , Bencini Erica , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...

hrp0086p2-p795 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Children Born Small for Gestational Age (SGA) - Our Experiences

Janchevska Aleksandra , Gucev Zoran , Tasevska-Rmush Liljana , Tasic Velibor

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births.Objective and hypotheses: Small for gestation age (SGA) may influence prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate prevalence, clinical features and outcome of SGA born children with associated CAKUT....

hrp0086p2-p796 | Pituitary and Neuroendocrinology P2 | ESPE2016

Severe Juvenile Hypertrophy of the Breast with Hypercalcaemia; Mastectomy v’s Reduction Surgery

McGregor David , Candler Toby , Selby Georgina , Crowne Liz , Rayter Zenon

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

hrp0086p2-p797 | Pituitary and Neuroendocrinology P2 | ESPE2016

Report Two Cases of Dopa-Responsive Dystonia

Zhuannan Jiang , Liyang Liang , Zhe Meng , Lina Zhang , Lele Hou

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...