hrp0092p1-304 | Adrenals and HPA Axis (2) | ESPE2019

Identification of Novel and Rare CYP21A2 Variants in Chinese Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Xu Jing , Li Pin

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

hrp0092p1-326 | Diabetes and Insulin (2) | ESPE2019

Copy Number Variation (CNV) Sequencing Identifies a Novel Mutation of the Glucokinase Gene in Maturity-Onset Diabetes of the Young

Li Yan , Li Pin

Backgrounds: Maturity-onset diabetes of the young (MODY) is a cluster of early-onset, monogenic disorders which is inherited in autosomal dominant form. It is mainly caused by genetic defects in beta-cell, which results in beta-cell dysfunction. Till now, 14 MODY types specified by mutation in respective 14 genes with their etiologies are known. Among them, glucokinase (GCK) gene encodes glucokinase enzyme which plays a crucial role in the regulation of insuli...

hrp0097lb16 | Late Breaking | ESPE2023

Associations Between Serum Levels of Thyroid Function and Per- and Polyfluoroalkyl Compounds Concentrations in Central Precocious Puberty in Girls

Li Yan , Li Pin

Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset.Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP).Methods: In a prospective study initially established for assess...

hrp0097p2-296 | Late Breaking | ESPE2023

Cryptorchidism, and hormones in patients with androgen insensitivity syndrome and 5alpha-reductase type 2 deficiency

Liu Qingxu , Li Pin

Background: Data on the effect of cryptorchidism on hormones of androgen insensitivity syndrome (AIS) and 5alpha-reductase type 2 deficiency (5α-RD2) are still limited.Methods: We retrospectively evaluated 47 patients with AIS and 79 with 5α-RD2 to investigate the effect of cryptorchidism on hormone levels.Results: Anti-Müllerian hormone (AMH) levels in the AIS gro...

hrp0082p2-d1-566 | Sex Development | ESPE2014

The Research About sf1 Gene Abnormality in 45 Children with Micropenis

Li Pin , Gong Yan , Zhuzhi Ying

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

hrp0097lb10 | Late Breaking | ESPE2023

FTO-mediated m6A modification of BDNF enhances GnRH expression during puberty onset via activating PI3K/AKT signaling.

Zang Shaolian , Yin Xiaoqin , Li Pin

Background: The etiology of central precocious puberty (CPP) still remains unknown. The abnormal expression of Fat mass and obesity-associated (FTO)-mediated N6-methyladenosine (m6A) has been confirmed to play the crucial roles in CPP. This study aimed to explore the mechanism of FTO-mediated m6A modification of brain-derived neurotrophic factor (BDNF) on CPP with puberty onset.Methods: The qRT-PCR and immunofluorescence...

hrp0092p3-195 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Changes of Serum 25OHD Levels in Girls with Different Types of Central Precocious Puberty and Clinical Significance

Xu Liya , Li Pin , Gong Yan , Guo Sheng

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...

hrp0094p2-379 | Pituitary, neuroendocrinology and puberty | ESPE2021

An Observational, Retrospective Study to Evaluate Long Term Safety and Effectiveness of Leuprorelin in the Treatment of Central Precocious Puberty

Fu Junfen , Dong Guanping , Li Pin , Gong Yan , Yang Yu , Yang Li , Gu Wei , Yuan Xuewen , Luo Xiaoping , Hou Ling , Zhong Yan , You Cheng , Wang Winston , Guo Ziheng ,

Objectives: To describe safety and effectiveness of high (≥90-180 µg/kg) and low (<90-30 µg/kg) dose leuprorelin in treating central precocious puberty (CPP).Methods: In this observational, retrospective study, effectiveness was evaluated based on regression or no progression of Tanner staging as the primary outcomes. LH, FSH, estradiol or testosterone suppression, and decrease in bone age to chronolo...