hrp0095p1-564 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adenohypophyseal Hyperfuction in Childeren and Adolescents with McCune-Albright Syndrome

Xie Liu-lu , Li Yan-hong , Ma Hua-mei , Du Min-lian

Background: McCune-Albright Syndrome(MAS)is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

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...

hrp0095p1-585 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long Term Follow-up of A Boy Who Had Suprasella Tumor Recurrence 4 Years After the First Diagnosis of Extracranial GCTs

Shi Xian-jun , Li Yanh-hong , Ma Hua-mei , Du Min-lian

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

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...

hrp0092p1-40 | Fat, Metabolism and Obesity | ESPE2019

Late Pregnancy Exposure to Mono(2-ethyl-5-hydroxyhexyl) Phthalate Affects Weight Z-scores in Children up to 2 Years

Shah-Kulkarni Surabhi , Kim Hae Soon , Park Hyesook , Hong Yun-Chul , Kim Yangho , Ha Eun-Hee

Background: Endocrine-disruptor compounds (EDCs) like phthalates and bisphenol A (BPA) can have long term effect on children's physical growth. Studies have reported that effect of EDCs exposure on concurrent physical parameters like weight. But there is a knowledge gap with regards to long term effects of EDCs exposure on children's physical growth. Thus, in this study we evaluated the prenatal exposure of EDCs: BPA and phthalates and their influence ...

hrp0092p1-297 | Adrenals and HPA Axis (2) | ESPE2019

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

Zhu Jianfang , Chen Hong , Wang Chunlin , Fang Yanlan , Kong Yuanmei , Liang Li

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

hrp0092p2-292 | Thyroid | ESPE2019

Thyroid Autoimmunity in Children and Adolescents with Type 1 Diabetes Mellitus

Selveindran Nalini M , Wong SL Jeanne , Hong Janet YH , MZ Fuziah

Introduction: Type 1 diabetes mellitus (T1DM) is commonly associated with other organ – specific autoimmune disorders. Autoimmune thyroid disease (AITD) is the most common comorbid autoimmune condition in patients with T1DM. The occurrence of both T1DM and AITD is defined as Autoimmune Polyglandular Syndrome type 3 variant (APS3v). We sought to clarify thyroid autoimmunity in a cohort of Malaysian patients with T1DM.Methods<...

hrp0092p3-223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Indentification of a de Novo Mutation in the SRY Gene in a 46,XY Complete Gonadal Dysgenesis Patient with Gonadal Neoplasia and Review of Tumor Risk in 46,XY DSD Patients

He Minfei , Chen Hong , Zhu Yilin , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunling

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

hrp0089p3-p399 | Diabetes &amp; Insulin P3 | ESPE2018

Family Investigation and Clinical Phenotype Analysis of Type A Insulin Resistance Syndrome

Chen Yonghua , Chen Hong , Fang Yanlan , Wang Chunlin , Zhu Jianfang , Liang Li

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...

hrp0089p2-p180 | Fat, Metabolism and Obesity P2 | ESPE2018

Relationships between Obesity Parameters and Urinary Concentrations of Phthalates and Phenols in Korean Girls

Kim Shin-Hye , Choi Man Ho , Hong Youngmin , Park Mi-Jung

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...