P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.
Endocr Pract
; 17(1): 99-103, 2011.
Article
em En
| MEDLINE
| ID: mdl-20841309
OBJECTIVE: To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation. METHODS: We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient. RESULTS: An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche. Blood pressure was 155/90 mm Hg, she had no axillary or pubic hair, breasts were Tanner stage 1, and female genitalia were Tanner stage 1. Further laboratory studies showed hypokalemia with metabolic alkalosis, hypergonadotropic hypogonadism, a 46, XY karyotype, a low 17-hydroxyprogesterone level, and a high deoxycorticosterone level. Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCAâTAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X). Imaging studies showed large adrenal glands, cystic picture in the inguinal canal (suggestive of intra-abdominal testes), and absent Müllerian structures. Exploratory laparotomy was performed to remove the remaining gonads, and the final histologic examination showed atrophic testes. CONCLUSIONS: Congenital adrenal hyperplasia due to CYP17 deficiency should be suspected in patients with hypertension, hypokalemic alkalosis, and hypogonadism. In such cases, it is mandatory to assess the karyotype and perform hormonal and molecular genetic studies.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteroide 17-alfa-Hidroxilase
/
Hiperplasia Suprarrenal Congênita
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Female
/
Humans
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Endocr Pract
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Estados Unidos