hrp0084p2-441 | Gonads | ESPE2015

The Effect and Pharmacokinetics of Percutaneous Administration of Dihydrotestosterone Gel in Chinese Children with Microphallus

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

Background: Percutaneous administration of dihydrotestosterone (DHT) gel has been successful used in promoting phallic growth in children with micropenis. We investigated whether percutaneous administration of DHT gel is similarly effective in Chinese children with microphallus due to various etiologies.Objective and hypotheses: To study the pharmacokinetics and effect of percutaneous administration DHT gel in the Chinese microphallus patients.<p cla...

hrp0084p2-542 | Puberty | ESPE2015

Gonadotropin-Releasing Hormone Agonist Analog (Tripotorelin) Stimulation Test in Evaluation of Pituitary -Testicular Function in Boys

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

Background: The hypothalamus-pituitary-gonad (HPG) axis is crutial to the development and function of reproductive system. Gonadotropin-releasing hormone (GnRH) has been the standard test for the assessment of activation of HPG axis. Because GnRH is no longer available, GnRH analogues (GnRHa) are now used. In previous studies, GnRHa stimulation tests have been the mainstay for establishing the diagnosis of precocious puberty in female and distinguishing constitutional delay of...

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).</...

hrp0084p3-1166 | Puberty | ESPE2015

Functional MRI of a Female Teenager of Prada-Willi Syndrome Complicated with Mosaic Turner Syndrome

Wang Wei , Li Juan , Sun Ying , You Hui , Ma Chao , Song Hongmei , Zhao Weigang

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

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...