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
Article
in Spanish
| LILACS
| ID: lil-612478
Responsible library:
CL1.1
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 andmethods:
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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Collection:
International databases
Database:
LILACS
Main subject:
Adrenal Hyperplasia, Congenital
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Spanish
Journal:
Rev. chil. endocrinol. diabetes
Journal subject:
Endocrinology
Year:
2008
Document type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Clínica Las Condes/CL
/
Clínica Santa María/CL
/
Pontificia Universidad Católica de Chile/CL