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...