Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review

Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean boy with familial history of precocious puberty thr...

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Published in:Annals of pediatric endocrinology & metabolism 2024, Vol.29 (1), p.60-66
Main Authors: Ha, Jihyun, Choi, Yunha, Jung, Mo Kyung, Yoo, Eun-Gyong, Yoo, Han-Wook
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container_title Annals of pediatric endocrinology & metabolism
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creator Ha, Jihyun
Choi, Yunha
Jung, Mo Kyung
Yoo, Eun-Gyong
Yoo, Han-Wook
description Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean boy with familial history of precocious puberty through 3 generations. A 16-month-old boy presented with signs of precocious puberty, including pubic hair, acne, and increased growth velocity. The patient's grandfather and father had a history of precocious puberty and profound short stature. On physical examination, the patient had prepubertal testes with pubic hair development appropriate for Tanner stage II. The stretched penile length was 7 cm (>2 standard deviation score), and observed bone age was that of a 4-year-old boy. Laboratory findings showed high serum testosterone (5.74 ng/mL [appropriate for Tanner IV-V]; normal range,
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Genetic testing revealed a pathogenic variant of LHCGR (c.1730 C&gt;T (p.Thr577Ileu)), confirming FMPP. Bicalutamide and anastrozole were administered, and pubertal progression was sufficiently suppressed without any specific side effects. 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title Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review
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