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- Title
The ominous trio of PCSK1, CHD7 and PAX4: Normosmic hypogonadotropic hypogonadism with maturity‐onset diabetes in a young man.
- Authors
Cho, Yun Kyung; Lee, Jin Mi; Song, Geehyun; Choi, Hoon Sung; Cho, Eun‐Hee; Kim, Sang‐Wook
- Abstract
Keywords: digenic inheritance; hypogonadotropic hypogonadism; maturity-onset diabetes of the young EN digenic inheritance hypogonadotropic hypogonadism maturity-onset diabetes of the young 554 557 4 05/14/20 20200601 NES 200601 Normosmic congenital hypogonadotropic hypogonadism (NHH) denotes Kallmann syndrome without anosmia or hyposmia. The WES of the proband revealed heterozygous missense mutations in the I PCSK1 i (c.239G > A, p.Arg80Gln, rs1799904) and I CHD7 i (c.6107C > T, p.Pro2036Leu, rs369543203) genes. Furthermore, the proband had a homozygous missense mutation in the I PAX4 i gene (c.575G > A, p.Arg192His, rs2233580), which is also known as the MODY 9 gene.[3] Interestingly, both parents were heterozygous for this mutation.
- Subjects
KALLMANN syndrome; HYPOGONADISM; TYPE 2 diabetes; MEDICAL genetics; YOUNG men; GENETIC mutation
- Publication
Clinical Endocrinology, 2020, Vol 92, Issue 6, p554
- ISSN
0300-0664
- Publication type
Article
- DOI
10.1111/cen.14182