hrp0082p3-d1-985 | Thyroid | ESPE2014

Trends in Incidence of Permanent and Transient Congenital Hypothyroidism in Shanghai China

Fan Xin , Gu Xuefan , Luo Jingsi , Qiu Wenjuan , Ye Jun , Chen Shaoke , Xu Jianfeng

Background: Congenital hypothyroidism (CH) is a major target of new born screening. It has two major forms (permanent and transient) that have different prognoses.Objective and hypotheses: The purposes of this study were to assess the trends in incidence of permanent and transient CH in China, and to identify clinical variables that may help to distinguish these two forms of CH.Method: Newborns were screened for CH at Xinhua Hospit...

hrp0097rfc1.5 | Adrenals and HPA Axis | ESPE2023

Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita

Zheng Wanqi , Duan Ying , Xia Yu , Liang Lili , Gong Zhuwen , Wang Ruifang , Lu Deyun , Zhang Kaichuang , Yang Yi , Sun Yuning , Zhang Huiwen , Han Lianshu , Gong Zizhen , Xiao Bing , Qiu Wenjuan

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...