Adrenal hypoplasia congenita:a rare cause of primary adrenal insufficiency andhypogonadotropic hypogonadism

Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hor-mones due to an intrinsic disease of the adre-nal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insuf-ficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his per-sistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of pri-mary adrenal insufficiency and hypogo-nadotropic hypogonadism, related to muta-tions in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypog-onadism