46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
J Clin Res Pediatr Endocrinol
; 10(1): 74-78, 2018 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-28739554
ABSTRACT
17-beta hydroxysteroid dehydrogenase type 3 (17ßHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ranging from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias. We present here an infant who was referred to our clinic because of ambiguous genitalia at birth. Gonads were palpable in the inguinal canal bilaterally and no Müllerian structures were identified on pelvic ultrasound. Because of a low T/Δ4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17ßHSD-3 deficiency was made which was confirmed after genetic analysis of the HSD17B3 gene of the patient. The molecular analysis identified compound heterozygosity of two previously described mutations and could offer some further validation for the idea of a founder effect for 655-1;GâA mutation in the Greek population.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo de Esteroides
/
Transtorno 46,XY do Desenvolvimento Sexual
/
Ginecomastia
/
17-Hidroxiesteroide Desidrogenases
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Clin Res Pediatr Endocrinol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Grécia