两例先天性肾上腺发育不良伴低促性腺激素性性腺功能减退症

摘要

目的：通过探讨两例先天性肾上腺发育不良（adrenal hypoplasia congenital，AHC）伴低促性腺激素性性腺功能减退（hypogonadotropic hypogonadism，HHG）患者的临床表现，增强对先天性肾上腺发育不良症的认识，为今后更及时有效地诊治肾上腺疾病提供帮助。方法收集患者的临床资料、生化检查、影像学检查结果及家族史，分析其发病原因。结果患者临床表现、实验室检查和影像学检查符合 AHC 诊断。患者糖皮质激素替代治疗后，症状改善。结论AHC 患者可伴有低促性腺激素性性腺功能减退症，包括性发育不良和假性性早熟。对于临床上存在肾上腺皮质功能减退、HHG患者，应该考虑到该疾病可能。%Objective To analyze the clinical manifestations of two cases of adrenal hypoplasia congenital(AHC)accompa-nied by hypogonadotropic hypogonadism(HHG),and enhance the understanding of AHC to diagnose and manage the disease more effectively.Methods Clinical features and laboratory data were collected from the patients with AHC and HHG.Results AHC was diagnosed by comprehensive consideration of the clinical presentations and lab tests.Conclusion Patients with AHC may also suffer from HHG,including gonadal dysgenesis and pseudo precocious puberty.AHC should be considered for patients with adrenocortical hypofunction and HHG.