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

  • Marta Loureiro | martafloureiro@gmail.com Pediatrics Department, Hospital Garcia de Orta, Almada, Portugal.
  • Filipa Reis Pediatrics Department, Hospital Garcia de Orta, Almada, Portugal.
  • Brígida Robalo Endocrinology Unit, Pediatrics Department, Hospital Santa Maria, Lisboa, Portugal.
  • Carla Pereira Endocrinology Unit, Pediatrics Department, Hospital Santa Maria, Lisboa, Portugal.
  • Lurdes Sampaio Endocrinology Unit, Pediatrics Department, Hospital Santa Maria, Lisboa, Portugal.

Abstract

Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal 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 insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently 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 primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations 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 hypogonadism.

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Published
2015-09-28
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Section
Case Reports & Letters
Keywords:
Primary adrenal insufficiency, hypogonadotropic hypogonadism, adrenal hypoplasia congenita
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How to Cite
Loureiro, M., Reis, F., Robalo, B., Pereira, C., & Sampaio, L. (2015). Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism. Pediatric Reports, 7(3). https://doi.org/10.4081/pr.2015.5936