hrp0084p3-590 | Adrenals | ESPE2015

Characterisation of Ovarian Adrenal Rest Tumours in Children and Adolescent Females with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Su Zhe , Li Yanhong , Ma Huamei , Du Minlian

Background: Ovarian adrenal rest tumours (OARTs) are rare in contrast to testicular adrenal rest tumours (TARTs).Objective and hypotheses: To summarise the characterization of OART in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method: We have diagnosed four cases of CAH 21-OHD with OART in the recent 5 years and summarised the characterisations.<p class="a...

hrp0094fc3.2 | Growth Disorders | ESPE2021

Identification of a FBN1 variant in a pedigree affected with Severe Short Stature with a Mild Form of Geleophysic Dysplasia Type 2

MA Huamei , Zhang Jun , Guo Song , Chen Qiuli , LI Yanhong ,

Objective: To explore the genetic basis for a Chinese three-generations pedigree affected with Severe Short Stature with a mild form of Geleophysic Dysplasia Type 2(GD2)Methods: We collected 11 related family members from a Chinese 3-generation pedigree with severe short stature with a mild form of Geleophysic Dysplasia Type 2 GD2. Clinical data of the 11 family members was collected.With genomic DNA...

hrp0094p2-394 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

SRY negative 46XX male syndrome: case report

Zhang Jun , Ma Huamei , Chen Qiuli , Guo Song ,

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

hrp0094p2-77 | Bone, growth plate and mineral metabolism | ESPE2021

Effect of tamoxifen on linear growth of precocious female SD rats

MA Huamei , LI Yanhong , DU Minlian , CHEN Qiuli , CHEN Hongshan ,

Background: Tamoxifen is a selective estrogen receptor modulator,administrated in girls with precocious puberty such as McCune-Albright syndrome.Objective: To explore the effect of tamoxifen on the linear growth of precocious pubertal female rats.Method: At 16-22 day of age, 16 precocious pubertal female rats(induced by 300 μg danazol s.c. at 5-day old), were randomized...

hrp0094p2-225 | Fat, metabolism and obesity | ESPE2021

A case report of sitosterolemia and the early differential diagnosis

Zhang Jun , Ma Huamei , Chen Qiuli , Guo Song ,

Objective: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

hrp0094p2-301 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The evaluation of growth velocity, height, weight, elementary laboratory tests and hormonal function in the patient with Floating-Harbor syndrome treated with growth hormone for 20 months –case report, preliminary report.

Okońska Maja , Myśliwiec Małgorzata ,

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

hrp0086p2-p281 | Diabetes P2 | ESPE2016

Child with Mutation in GATA 6 Gene – Case Report

Brandt Agnieszka , Szmigiero-Kawko Małgorzata , Młynarski Wojciech , Wierzba Jolanta , Myśliwiec Małgorzata

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...

hrp0084p3-622 | Adrenals | ESPE2015

Prenatal Treatment of Congenital Adrenal Hyperplasia: A Survey of Paediatric Endocrinologist

Guindulain Maria J Chueca , Riano-Galan Isolina , Cardon Elisabeth Blarduni , Perez Ma Victoria Borras , Feijoo Lidia Castro , Lopez Ignacio Diez , Sanz Ma Angeles Donoso , Aromir Gertrudis Marti , Calvo Ma Teresa Munoz , Mercader Pilar Terradas

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

hrp0092p3-288 | Late Breaking Abstracts | ESPE2019

Circulating Chemerin may be Associated with Early Vascular Pathology in Obese Children without Overt Arterial Hypertension – Preliminary Results

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Małek Agnieszka , Sztefko Krystyna , Starzyk Jerzy

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...

hrp0089p2-p253 | Growth &amp; Syndromes P2 | ESPE2018

Influence of Puberty on Adult Height of SGA Children Treated with GH

Lopez-Siguero Juan P. , Munoz-Martinez Pablo , Borras-Perez Ma Victoria , Alvarez-Casano Maria , Sanchez-Moreno Sonia , Martinez-Aedo Ma Jose

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...