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Pediatric Reports
Volume 7
Issue 3
10.4081/pr.2015.5936
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Case Report

Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism

by
Marta Loureiro
1,*,
Filipa Reis
1,
Brígida Robalo
2,
Carla Pereira
2 and
Lurdes Sampaio
2
1
Pediatrics Department, Hospital Garcia de Orta, Almada, Portugal
2
Endocrinology Unit, Pediatrics Department, Hospital Santa Maria, Lisboa, Portugal
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2015, 7(3), 5936; https://doi.org/10.4081/pr.2015.5936
Submission received: 3 April 2015 / Revised: 6 July 2015 / Accepted: 7 July 2015 / Published: 28 September 2015

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.
Keywords: Primary adrenal insufficiency; hypogonadotropic hypogonadism; adrenal hypoplasia congenita Primary adrenal insufficiency; hypogonadotropic hypogonadism; adrenal hypoplasia congenita

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MDPI and ACS Style

Loureiro, M.; Reis, F.; Robalo, B.; Pereira, C.; Sampaio, L. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism. Pediatr. Rep. 2015, 7, 5936. https://doi.org/10.4081/pr.2015.5936

AMA Style

Loureiro M, Reis F, Robalo B, Pereira C, Sampaio L. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism. Pediatric Reports. 2015; 7(3):5936. https://doi.org/10.4081/pr.2015.5936

Chicago/Turabian Style

Loureiro, Marta, Filipa Reis, Brígida Robalo, Carla Pereira, and Lurdes Sampaio. 2015. "Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism" Pediatric Reports 7, no. 3: 5936. https://doi.org/10.4081/pr.2015.5936

APA Style

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), 5936. https://doi.org/10.4081/pr.2015.5936

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