hrp0082p2-d1-262 | Adrenals & HP Axis | ESPE2014

Mutation Spectrum of CYP11B1 Gene in Turkish Patients with 11β-hydroxylase Deficiency

Kandemir Nurgun , Yilmaz Didem Yucel , Gonc E Nazli , Ozon Z Alev , Alikasifoglu Ayfer , Dursun Ali , Ozgul R Koksal

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

hrp0082p2-d2-277 | Adrenals & HP Axis (1) | ESPE2014

Psychological and Behavioral Outcome of Female Patients with Congenital Adrenal Hyperplasia

Ashmawy Abeer El , Abdou Amany , Nasr Mohamed , Tawfik Sameh , Abdelghaffar Shereen , Ibrahim Amany

Background: Children with congenital adrenal hyperplasia (CAH) may suffer from multiple psychological troubles.Objective and hypotheses: To assess the psychological and behavioral outcome of genetically females with classic CAH and to study the extent to which these behavioral changes could be attributed to high levels of androgens in the prenatal and postnatal periods.Method: 51 genetically females with CAH, representing Prader st...

hrp0082p2-d1-450 | Growth | ESPE2014

Identification of NPR2 Mutations in Disproportionate Short Stature

Hisado-Oliva Alfonso , Benito-Sanz Sara , Belinchon Alberta , Vallespin Elena , del Pozo Angela , Barreda-Bonis Ana C. , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Campos-Barros Angel , Heath Karen E.

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

hrp0082p3-d3-919 | Pituitary (1) | ESPE2014

Dynamic Stimulation Testing in Pediatric Endocrinology: Experience of a Pediatric Endocrine Unit in a Developing Country

Sundaram Janani , Prasad Hemchand Krishna , Murugesan Gnanabalan , Vasudevan Ravisekar , Sangaralingam Thangavelu

Background: Basal or unstimulated hormone levels frequently do not provide sufficient diagnostic information in the investigation of endocrine disorders. A range of dynamic or provocative tests are available to assess the dynamic responses of hormones and make necessary diagnoses.Objective and hypotheses: To describe the experiences with dynamic stimulation testing of a Paediatric Endocrine Unit in a developing country.Method: Retr...

hrp0082p3-d3-947 | Puberty and Neuroendocrinology (1) | ESPE2014

The Etiology of Central Precocious Puberty and Effect of GnRH Agonist for 2 years in Korean Boys

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

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...

hrp0082p3-d2-966 | Sex Development (1) | ESPE2014

A Rare Case of Swyer Syndrome with Spontaneous Breast Development and Menstruation

Dundar Bumin Nuri , Sule Can P , Alparslan Caner , Akbay Sinem , Catli Gonul , Kelekci Sefa

Background: Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder, which is characterized by female phenotype, female internal genitalia and fibrotic and primitive gonads. Classically, breast development and menstruation are absent due to hypergonadotropic hypogonadism.Objective and hypotheses: To our knowledge, three cases of Swyer syndrome with spontaneous breast development have been reported so far. In these reports, breast development wa...

hrp0082p3-d2-973 | Sex Development (1) | ESPE2014

Incidens of Sex Differentione Disorder: 46,XY

Sultanova Shakhrizada , Yakupova Rano

Background: Disorder in formig the sex is a condition associated with the clinical and biochemical manifestation of the discrepancy between genetic, gonadal and phenotypic sex of a child.Clinical case: A girl of 15 years old with complaints about the menses lack.History of the case: Parents are closely related marriage. They are first cousins. There are three children in the family, two of them being healthy. At 13 years of age, th...

hrp0084fc3.1 | Diabetes | ESPE2015

RNA-Based MAFA Over-Expression is Sufficient to Drive Human Pancreatic Duct-Derived Cells Toward a β-Cell-Like Phenotype

Corritore Elisa , Dugnani Erica , Pasquale Valentina , Piemonti Lorenzo , Vetere Amedeo , Bonner-Weir Susan , Sokal Etienne M , Lysy Philippe A

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

hrp0084fc5.1 | Endocrine Oncology/Turner | ESPE2015

Resveratrol Potentiates Growth Inhibitory Effects of Rapamycin in PTEN-deficient Lipoma Cells by Suppressing p70S6 Kinase Activity

Leipert Jenny , Kassner Franziska , Schuster Susanne , Handel Norman , Korner Antje , Kiess Wieland , Garten Antje

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...