Department of Internal Medicine, School of Medicine, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Endocr Metab Immune Disord Drug Targets. 2024;24(14):1704-1708. doi: 10.2174/0118715303285405240202092244.
Adrenal Hypoplasia Congenita (AHC) is a rare subtype of primary adrenal insufficiency (PAI) that can go undiagnosed easily. In this article, we report two brothers with hypogonadotropic hypogonadism and novel mutations in the NR0B1 gene who were misdiagnosed and mismanaged as having congenital adrenal hypoplasia (CAH) for several years.
Herein, we describe two brothers with similar histories; first, they were diagnosed with CAH and treated for that; however, after several years, they showed symptoms of lack of testosterone despite receiving CAH treatment. Low levels of testosterone and LH were detected in both, and a genetic test of CAH was negative for the first brother. Thereafter, DAX- 1 deficiency was suspected, and their genetic tests (the NR0B1 gene) confirmed the diagnosis of DAX-1.
The diagnosis of CAH in case of low levels of 17- OHP, testosterone, and LH, as well as central hypogonadotropic hypogonadism, should be studied, and further investigations are mandatory to evaluate other subtypes of PAI, especially AHC.
先天性肾上腺发育不全（AHC）是一种罕见的原发性肾上腺功能不全（PAI）亚型，容易被漏诊。本文报道了 2 例具有促性腺激素低下性性腺功能减退和 NR0B1 基因突变的兄弟，他们被误诊和误治为先天性肾上腺发育不全（CAH）多年。
本文描述了 2 例具有相似病史的兄弟，首先，他们被诊断为 CAH 并接受了相应治疗；然而，几年后，尽管接受了 CAH 治疗，他们仍出现了缺乏睾酮的症状。两兄弟均检测到睾酮和 LH 水平较低，且对第一个兄弟进行 CAH 基因检测为阴性。随后，怀疑存在 DAX-1 缺乏症，他们的基因检测（NR0B1 基因）证实了 DAX-1 的诊断。
对于低水平的 17-羟孕酮、睾酮和 LH，以及中枢性促性腺激素低下性性腺功能减退症，应考虑 CAH 的诊断，有必要进一步检查以评估其他类型的 PAI，特别是 AHC。
