[Congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child].
Probl Endokrinol (Mosk)
; 67(5): 53-57, 2021 09 26.
Article
em Ru
| MEDLINE
| ID: mdl-34766491
ABSTRACT
11ß-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11ß-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11ß-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperplasia Suprarrenal Congênita
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Aspecto:
Determinantes_sociais_saude
Limite:
Child, preschool
/
Humans
Idioma:
Ru
Revista:
Probl Endokrinol (Mosk)
Ano de publicação:
2021
Tipo de documento:
Article