hrp0084p3-613 | Adrenals | ESPE2015

Near-Final Height Outcome of Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency in 55 Chinese Patients

Lin Juan , Ma Huamei , Li Yanhong , Du Minlian , Chen Hongshan , Chen Qiuli , Zhang Jun

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is reported inadequate growth and impairment of the final height (FH).Objective: We present the results of near FH in 55 patients with classic 21-OHD followed up for approximately 11.6 years(the longest 25.3 years)in a single institution, and the variables related to NFH.Method: Patients with classic 21-OHD followed up at our clinic, who had ...

hrp0084p3-616 | Adrenals | ESPE2015

Nephrotic Syndrome Developing in a Girl with Classic 21-Hydroxylase Deficiency – First Report

Ma Huamei , Lin Juan , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...

hrp0084p3-994 | Gonads | ESPE2015

Homozygous CYP17A1 Mutation Identified in a Chinese Family with 46, XX and 46, XY 17α-Hydroxylase Deficiency

Ma Huamei , Du Minlian , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

hrp0084p3-1236 | Turner | ESPE2015

A Comparison of Efficacies between rhGH and rhGH Combined with Stanozolol Therapies in Growth of the Girls with Turner Syndrome

Li Dan , Chen Hongshan , Du Minlian , Li Yanhong , Chen Qiuli , Ma Huamei , Zhang Jun

Objective and hypotheses: To compare the different efficacies between recombinant human GH (rhGH) alone and rhGH combined with low does stanozolol on improving growth of the girls with Turner syndrome (TS).Method: TS girls were divided into two groups. Group 1 (15 cases) received rhGH therapy, aged (13.09±2.70) years, bone age (11.00±1.01) years, height was (131.46±8.22) cm. Group 2 (22 cases) received low does stanozolol combined with rhG...

hrp0094p2-53 | Adrenals and HPA Axis | ESPE2021

Mutation of NROB1 and Double mutants in cis of CYP21A2 gene in a Chinese boy with primary adrenal insufficiency

MA Huamei , ZHENG Rujiang , Chen Zhixin , Guo Song , Zhang Jun , Chen Qiuli , LI Yanhong ,

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

hrp0094p2-319 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Rare case report: A Chinese boy with MDPL syndrome cause by POLD1 gene mutation

Chen Qiuli , Zhang Jun , Guo Song , Li Yanhong , Ma Huamei , Chen Hongshan , Chen Zhixin ,

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

hrp0095p2-10 | Adrenals and HPA Axis | ESPE2022

Long-term Outcomes for Ninety-four Boys with Central Precocious Puberty or Early and Fast Puberty in Chinese Boys

Chen Zhixin , Chen Qiuli , Li Yanhong , Ma Huamei , Zhang Jun , Guo Song

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...

hrp0095p2-216 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

β-hcg secreting intracranial germinoma in a girl with isosexual precocious puberty : A case report and review of literature

Chen Zhixin , Chen Qiuli , Ma Huamei , Li Yanhong , Zhang Jun , Guo Song

Objective: To analyze the clinical characteristics and treatment of non-germinomatous germ cell tumor (NGGCT) in one girl with the initial onset of homosexual peripheral precocious puberty (PPP) and central diabetes insipidus (CDI) and eventually progressed into central precocious puberty (CPP).Methods: The clinical data of a girl who was diagnosed as NGGCT with the onset of PPP and CDI and eventually progressed into CPP...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...