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...

hrp0092p2-114 | Fat, Metabolism and Obesity | ESPE2019

Five Years' Follow-up of the Effect of Sex Steroid Hormone on Lipid and Glucose Metabolism in Girls with Turner Syndrome

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

Objective: We sought to evaluate the role of long-term HRT on the lipid profile and glucose metabolism in girls with TS.Design: A pre-test/post-test observational study.Seting: Pediatric TS clinic in The First Affiated Hospital, Sun Yat-sen University.Patients: 56 girls with TS had accurate maintenance HRT data....

hrp0092p3-6 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Etiological Diagnosis of Premature Pubarche Among 55 Children

MA Huamei , LIN Juan , ZHANG Jun , LI Yanhong , CHEN Qiuli , CHEN Hongshan , GUO Song , DU Minlian

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

hrp0092p3-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Rare Case Report: Asymptomatic Hypercalcemia in Children with Lupus Nephritis Complicated with Parathyroid Adenoma

zhang jun , chen qiuli , guo song , ma huamei , li yanhong , chen hongshan , pu ronghui , du minlian

An 11-year-old boy came to our hospital on 2019-1-23 because of "discovered hypercalcemia for 4 months."Past History: The child has a history of lupus nephritis for 2 years, and currently oral prednisone 12.5mg qd, mycophenolic acid 0.25g q12h, tacrolimus 1mg q12h for treatment. The lupus activity index was reviewed once a month due to lupus nephritis. At present, SLEDAI (lupus activity score) is 2 points, and the condition is we...

hrp0092p3-151 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Follow-Up Study for a Boy with Floating–Harbor Syndrome Due to a de novo Novel Heterozygous SRCAP Mutation

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

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

hrp0092p3-163 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrinological Evaluation of Male Patient with Floating-Harbor Syndrome –case Report

Okońska Maja , Myśliwiec Małgorzata , Chrzańowska Krystyńa

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.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- is followed up in our Pediatric Endocrinology Outpatient Clinic ...

hrp0092p3-187 | Multisystem Endocrine Disorders | ESPE2019

Difficulties in Hypothyroidism and Diabetes Treatment in Patient with GATA6 Gene Mutation –case Report

Okońska Maja , Brandt Agnieszka , Myśliwiec Małgorzata

Introduction: Patients with GATA6 gene mutations have broad spectrum of clinical presentation, but most of them have pancreatic agenesis or hypotrophy, exocrine pancreatic insufficiency, insulin-treated neonatal diabetes and cardiac malformations. Some of them have significant neurocognitive deficits, hypopituitarism, hypothyroidism, gut abnormalities, biliary atresia, gallbladder agenesis.Case Report: The 5.5 year old f...

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...

hrp0092p3-204 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Diabetes Insipidus in Children with Pituitary Stalk Thickening in Two Cases

Sun Manqing , Ma Xiaoyu , Wang Wei , Ni Jihong , Dong Zhiya , Lu Wenli , Xiao Yuan , Wang Defen

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

hrp0092p3-222 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Research on Detecting the Dose of Estrogen in the Hormone Replacement Treatment in Girls with TS – A Retrospective Study in Single Clinical Center

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

Objective: The study was to detect the proper regimen of estrogen in HRT in girls with TS.Method: We conducted a retrospective, longitudinal study with 76 girls with TS from The First Affiliated Hospital of Sun Yat-sen University over the past two decades.Results: The investigation time was 3.00 (2.00, 4.66) yrs. The uterine volume grew significantly till B4 stage when compared wit...