Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review
| Autor: | Jihyun Ha, Yunha Choi,, Mo Kyung Jung, Eun-Gyong Yoo, Han-Wook Yoo |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 1, Pp 60-66 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2287-1012 2287-1292 |
| DOI: | 10.6065/apem.2346042.021 |
| Popis: | 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, T (p.Thr577Ileu)), confirming FMPP. Bicalutamide and anastrozole were administered, and pubertal progression was sufficiently suppressed without any specific side effects. To our knowledge, this is the first case of genetically confirmed FMPP in Korea. |
| Databáze: | Directory of Open Access Journals |
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