Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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. 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. 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. 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.

Original languageEnglish
Pages (from-to)1111-1118
Number of pages8
JournalJournal of Pediatric Endocrinology and Metabolism
Volume30
Issue number10
DOIs
Publication statusPublished - 26-10-2017
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Aoyama, K., Mizuno, H., Tanaka, T., Togawa, T., Negishi, Y., Ohashi, K., Hori, I., Izawa, M., Hamajima, T., & Saitoh, S. (2017). Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. Journal of Pediatric Endocrinology and Metabolism, 30(10), 1111-1118. https://doi.org/10.1515/jpem-2017-0035