hrp0084p2-522 | Puberty | ESPE2015

Effect of Specimen Repeated Freeze-Thaw Cycles on Urinary Gonadotropin Determined by Immunochemiluminometric Assays

Ma Yaping , Xu Zhuangjian , Hu Yu , Zhu Wenying , Wang Qing

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

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...

hrp0098p2-83 | Diabetes and Insulin | ESPE2024

Phenotypic Spectrum at Diagnosis of Age-Related Endotypes of Type 1 Diabetes Mellitus: A Cross-Sectional Study in China

Zhou Qiaoli , Zheng Xueqing , Ma Chenguang , Zhao Xue , Gu Wei

Background: Emerging evidence suggests the presence of distinct endotypes of type 1 diabetes mellitus (T1DM): T1DE1 in individuals diagnosed at age <7 years in contrast to T1DE2 in those diagnosed at ≥13 years of age. We aimed to comprehensively explore the phenotypic heterogeneity of T1DM with respect to the age-related endotypes.Methods: This cross-sectional study was conducted in China involving 1,204 children n...

hrp0098p3-229 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Complete Androgen Insensitivity Syndrome Coexisting with Müllerian Duct Remnants: A Case Report and Literature Review

Zhang Jun , Qiu Shan-Jiao , Ma Hua-Mei

This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from androgen receptor (AR) gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-...

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...