hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

MA Hua-mei , LI Yan-hong , Chen Qiu-li , DU Min-lian

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP),rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

hrp0092p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Pubertal Development Mode of Chinese Turner Syndrome Girls with Hormone Replacement Therapy

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

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

hrp0089p2-p034 | Adrenals and HPA Axis P2 | ESPE2018

Etiology of Primary Adrenal Insufficiency in Children: a 29-year Single Center Experience

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

Objective: To investigate the etiology and clinical features of Chinese children with PAI.Method: 427 children (age 0–18 years) with PAI followed at our institution between September 1989 and March 2016 were studied.Results: 1. 228 males and 199 female (1.14:1) were included. Median age at diagnosis was 1.66 (10th–90th, 0.06~8.73 yrs.2. An identified diagnosis(clinical or genetic) was obtained in 93...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

hrp0095p1-463 | Fat, Metabolism and Obesity | ESPE2022

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

Zhang Jun , Chen Qiu-li , Guo Song , Li Yan-hong , Li Chuan , Zheng Ru-jiang , Ma Hua-mei

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

hrp0082p2-d3-610 | Turner Syndrome | ESPE2014

Therapeutic Effects of GH Combined with Low-Dose Stanozolol on Growth Velocity and Final Height of Girls with Turner Syndrome

Chen Hong-Shan , Du Min-Lian , Li Yan-Hong , Xiong Hui , Ma Hua-Mei , Chen Qiu-Li

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

hrp0084p2-455 | Growth | ESPE2015

Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

Yan-hong Li , Min-lian Du , Hua-mei Ma , Hong-shan Chen , Qiu-li Chen , Jun Zhang

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

hrp0095p2-229 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

12 years follow-up of GH/PRL secreting pituitary macroadenoma in a child with McCune Albright syndrome

Wei Mei-hua , Li Yan-hong , Xie Liu-lu , Ma Hua-mei , Chen Qiu-li , Chen Hong-shan , Du Min-lian

Background: McCune-Albright Syndrome(MAS)includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

hrp0095p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Intracranial beta human chorionic gonadotropin(β-hCG)-secreting germ cell tumor in a girl with central precocious puberty

Huang Meng-tian , Zheng Ru-jiang , MA Hua-mei , LI Yan-hong , Jiang Bo , Huang Li-Bin , Guo Song , Zhang Jun , Chen Qiu-Li

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor(GCT) who presented with central precocious puberty(CPP).Method:<...