Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
J Pediatr Endocrinol Metab
; 30(10): 1111-1118, 2017 Oct 26.
Article
em En
| MEDLINE
| ID: mdl-28915117
ABSTRACT
BACKGROUND:
Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH.METHODS:
We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing.RESULTS:
We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive). Among four patients with KS carrying a CHD7 mutation, one had perceptive deafness and two had a cleft lip/palate.CONCLUSIONS:
The frequency of CHH genes in the Japanese was compatible with previous reports, except that CHD7 mutations might be more common. Furthermore, partial phenotype-genotype correlations were demonstrated in our cohort.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kallmann
/
Hipogonadismo
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Mutação
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article