Family case of constitutional delay of puberty

• Karina Kh. Chilachava
• Daria A. Maslennikova
• Daria S. Romaykina

Abstract

Constitutional delay of puberty and growth (CDGP) is inherited in an autosomal dominant pattern with varying penetrance. About 15 genes associated with CDGP have been verified. Most of them relate to genes that regulate energy metabolism or the formation and function of neurons that secrete gonadotropin-releasing hormone. One of the directions in the search for the causes of CDGP is the study of genes associated with the development of central hypogonadism. Several common genes for central hypogonadism and constitutional DP identified. Thus, mutation of the HS6ST1 gene was identified in 2% of cases of central hypogonadism and in one family with constitutional DP.

The study presents a family with a previously undescribed heterozygous mutation of the HS6ST1 gene (substitution c.652C>T: p.P218S). Three members of the family (the proband and 2 sisters) were found to have constitutional DP of varying severity, in 2 cases, delayed puberty was accompanied by growth retardation and underweight and in 1 case hyposmia. Clarification of the genetic causes of constitutional DP will improve the diagnosis and treatment of various forms of delayed puberty.

Keywords:hypogonadotropic hypogonadism; constitutional delay of puberty; delayed puberty; genetic test

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