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Article

Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2024

Khalili Shayesteh, Zakeri Anahita, Hadaegh Farzad, Zadeh Seyed Saeed Tamehri

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: Herein, we describe two brothers with similar...

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PMID: 38409716
DOI: 10.2174/0118715303285405240202092244

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