Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report.
Gynecol Endocrinol
; 40(1): 2373741, 2024 Dec.
Article
em En
| MEDLINE
| ID: mdl-39034929
ABSTRACT
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal tumors are rare. Here, we report a 17-year-old female with virilized external genitalia and primary amenorrhea, accompanied by a right adrenal tumor. Her 17-OHP level was normal, cortisol and androgen levels were significantly elevated, and the tumor pathology showed adrenal cortical adenoma. Gene testing for CYP21A2 showed c.518T > A in exon 4 and c.29313C > G in intron 2. The possibility of untreated classic CAH with 21-OH deficiency causing functional adrenal cortical adenoma should be considered. When clinical diagnosis highly considers CAH and cannot rule out the influence of functional adrenal tumors' secretion function on 17-OHP, gene mutation analysis should be performed.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteroide 21-Hidroxilase
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Neoplasias do Córtex Suprarrenal
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Hiperplasia Suprarrenal Congênita
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Adenoma Adrenocortical
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Gynecol Endocrinol
Assunto da revista:
ENDOCRINOLOGIA
/
GINECOLOGIA
Ano de publicação:
2024
Tipo de documento:
Article