Open AccessA Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
Author(s) -
Jia Zhu,
Ruth Choa,
Michael H. Guo,
Lacey Plummer,
Cassandra Buck,
Mark R. Palmert,
Joel N. Hirschhorn,
Stephanie B. Seminara,
Yee-Ming Chan
Publication year - 2015
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2015-1080
Subject(s) - proband , hypogonadotropic hypogonadism , pedigree chart , genetics , family history , exome sequencing , medicine , endocrinology , kallmann syndrome , pathogenesis , family aggregation , biology , gene , mutation , disease , hormone , infectious disease (medical specialty) , covid-19
Delayed puberty (DP) is a common issue and, in the absence of an underlying condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic cause for DP has yet been reported. In contrast, many genetic causes have been found for idiopathic hypogonadotropic hypogonadism (IHH), a rare disorder characterized by absent or stalled pubertal development.
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