تقرير
Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.
| العنوان: | Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review. |
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| المؤلفون: | Ha J; Department of Pediatrics, Bundang CHA Medical Center, CHA University, Seongnam, Korea., Choi Y; Department of Pediatrics, Bundang CHA Medical Center, CHA University, Seongnam, Korea., Jung MK; Department of Pediatrics, Bundang CHA Medical Center, CHA University, Seongnam, Korea., Yoo EG; Department of Pediatrics, Bundang CHA Medical Center, CHA University, Seongnam, Korea., Yoo HW; Department of Pediatrics, Bundang CHA Medical Center, CHA University, Seongnam, Korea. |
| المصدر: | Annals of pediatric endocrinology & metabolism [Ann Pediatr Endocrinol Metab] 2024 Feb; Vol. 29 (1), pp. 60-66. Date of Electronic Publication: 2024 Feb 29. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Korean Society of Pediatric Endocrinology Country of Publication: Korea (South) NLM ID: 101588279 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2287-1012 (Print) Linking ISSN: 22871012 NLM ISO Abbreviation: Ann Pediatr Endocrinol Metab Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Seoul : Korean Society of Pediatric Endocrinology |
| مستخلص: | 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, <0.05 ng/mL) with suppressed luteinizing hormone (<0.07 mIU/mL) and normal serum level of follicular stimulating hormone (0.56 mIU/mL; normal range, 0.38-1.11 mIU/mL). Genetic testing revealed a pathogenic variant of LHCGR (c.1730 C>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. |
| References: | J Pediatr. 2017 Nov;190:229-235. (PMID: 29144249) J Clin Endocrinol Metab. 1983 Sep;57(3):571-9. (PMID: 6223935) J Clin Endocrinol Metab. 1981 Feb;52(2):271-8. (PMID: 6780588) J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):242-8. (PMID: 26831561) J Pediatr Endocrinol Metab. 2018 Apr 25;31(5):551-560. (PMID: 29654692) Endocrinology. 2013 Oct;154(10):3900-13. (PMID: 23861372) J Pediatr Endocrinol Metab. 2009 Dec;22(12):1163-7. (PMID: 20333877) J Pediatr. 2006 Sep;149(3):416-20. (PMID: 16939760) AACE Clin Case Rep. 2019 Jan 30;5(1):e50-e53. (PMID: 31967000) J Pediatr Endocrinol Metab. 2008 Oct;21(10):995-1002. (PMID: 19209621) J Clin Endocrinol Metab. 1999 Jan;84(1):175-8. (PMID: 9920079) Endocr Dev. 2016;29:230-9. (PMID: 26680582) J Clin Res Pediatr Endocrinol. 2020 Aug 06;13(2):239-244. (PMID: 32757547) Hum Mol Genet. 1995 Feb;4(2):183-8. (PMID: 7757065) Front Endocrinol (Lausanne). 2022 Jul 14;13:906852. (PMID: 35909557) Nature. 1993 Oct 14;365(6447):652-4. (PMID: 7692306) J Clin Endocrinol Metab. 2000 Dec;85(12):4799-805. (PMID: 11134146) Clin Pediatr Endocrinol. 2014 Apr;23(2):53-8. (PMID: 24790387) N Engl J Med. 1989 Feb 23;320(8):496-502. (PMID: 2492636) |
| فهرسة مساهمة: | Keywords: Anastrozole; Bicalutamide; Familial male-limited precocious puberty; LHCGR |
| تواريخ الأحداث: | Date Created: 20240310 Latest Revision: 20240313 |
| رمز التحديث: | 20240313 |
| مُعرف محوري في PubMed: | PMC10925783 |
| DOI: | 10.6065/apem.2346042.021 |
| PMID: | 38461807 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2287-1012 |
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| DOI: | 10.6065/apem.2346042.021 |