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...

hrp0084p3-989 | Gonads | ESPE2015

Metabolism and Gonadal Axis of Early Menarche Girls and Girls Treated with GnRHa During Puberty

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

Background: Early menarche may be associated with diabetes, metabolic syndrome, cardiovascular disease and oligomenorrhoea in adults. While the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogues (GnRHa) during puberty was not so clear.Objective and hypotheses: We assessed in a retrospective unicentre study the state of metabolism and gonadal axis of early menarche girls and gir...

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...

hrp0084p3-998 | Gonads | ESPE2015

The Changes of Body Fat and Metabolic Parameters During GnRHa Treatment in Central Precocious Puberty or Early and Fast Puberty Girls

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

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...

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...

hrp0097lb1 | Late Breaking | ESPE2023

Familial hCG Syndrome in two Chinese Families with elevated hCG level concurrently in blood and cerebrospinal Fluid

Huang Mengtian , Zhang Jun , Ma Huamei , Li Yanhong , Zheng Rujiang , Chen Qiuli , Liu Liulu

Background: Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (β- hCG), moreover, elevated β-hCG in cerebrospinal fluid(CSF) has never been reported in familial hCG syndrome.Object: To report the two Chinese families of familial hCG syndrome with elevated β-hCG concurrently in blood/CSF.Method: We described the clini...

hrp0097lb15 | Late Breaking | ESPE2023

Metabolic Status in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...