Hiperplasia suprarrenal no clásica, características clínicas y genéticas / Clinical and genetic features of non classical adrenal hyperplasia
Rev. chil. endocrinol. diabetes
;
1(2): 92-97, abr. 2008. tab, graf
Artículo
en Español
| LILACS
| ID: lil-612478
ABSTRACT
Background: The non classical form of congenital adrenal hyperplasia (NCAH) is increasingly recognized inhyperandrogenic patients, with variable phenotypic expression. Aim: To determine the clinical, hormonal, andgenetic characteristics of a group of patients with NCAH. Patients and methods: The medical records of 57NCAH patients were retrospectively reviewed. The diagnosis was established by basal or post-ACTH-stimulation 17-hydroxyprogesterone (17-OHP) levels >7 ng/mL and > 15 ng/mL, respectively. Patients with post-ACTH 17-OHP levels between 10-15 ng/mL, and with one identified allele o without genetic tests, were consideredas heterozygous. Genotyping for 10 mutations was performed by PCR. Results: The average age of diagnosis was 12.4 +/- 0.9 years. Six patients were male. Pubarche and hirsutism were the clinical signs more frequently described in patients below 10 years of age (25/29) and over 10 years of age (11/24), respectively. A basal 17-OHP > 7 ng/mL was observed in 36 patients; the post ACTH 17-OHP was between 10-15 and > 15 ng/mL in 5 and 17 patients, respectively. Genotype analyses were performed in 38 patients. V281L was carried on approximately 68.4 percent of all alleles and 29 percent of patients carried severe mutations. Only one of five possible carrier patients, was diagnosed as NCAH after the genetic test (V281L/ In2splice). Conclusions: Males with NCAH were apparently sub-diagnosed. Pubarche and hirsutism were the more frequently reported signs. The genetic test is complementary in the diagnosis of NCAH. One third of the patients carried a classic mutation and could have an increased risk to have siblings with Classical CAH.
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Índice:
LILACS (Américas)
Asunto principal:
Hiperplasia Suprarrenal Congénita
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. chil. endocrinol. diabetes
Asunto de la revista:
Endocrinologia
Año:
2008
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Clínica Las Condes/CL
/
Clínica Santa María/CL
/
Pontificia Universidad Católica de Chile/CL
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