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2015 ; 7
(3
): 5936
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English Wikipedia
Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and
Hypogonadotropic Hypogonadism
#MMPMID26500747
Loureiro M
; Reis F
; Robalo B
; Pereira C
; Sampaio L
Pediatr Rep
2015[Sep]; 7
(3
): 5936
PMID26500747
show ga
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.