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Familial testotoxicosis in a Chinese family
1Department of Paediatrics, University of Hong Kong, Queen Mary Hospital, Pokfulam.
Abstract:
We report two cases of 'familial testotoxicosis' in a family of Southern Chinese descent. The proband, an 8-year 4-month-old boy and his 35-year-old father both presented with early sexual development. In both cases the testicular volume was only 6 ml despite fully developed secondary sexual characteristics. Both patients had adult testosterone concentrations but a suppressed gonadotrophin response to gonadotrophin-releasing hormone. The suppressed gonadotrophin response to gonadotrophin-releasing hormone in the father suggests that autonomous gonadal production of sex steroid by the testes can persist well into adult life in some patients with familial testotoxicosis.
Insights
Familial testotoxicosis causes early puberty in Southern Chinese males. Despite small testes, adult hormone levels persist due to autonomous testicular testosterone production.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Endocrinology
Background:
- Familial testotoxicosis is a rare condition characterized by precocious puberty.
- It is often linked to genetic mutations affecting the luteinizing hormone receptor (LHCGR).
- This condition leads to early activation of the testes, causing rapid sexual development.
Observation:
- Two cases of familial testotoxicosis were observed in a Southern Chinese family.
- The proband (8 years, 4 months) and his father (35 years) exhibited early sexual development.
- Both individuals presented with small testicular volumes (6 ml) despite developed secondary sexual characteristics.
Findings:
- Both patients displayed adult testosterone concentrations.
- A suppressed gonadotrophin response to gonadotrophin-releasing hormone was noted in both cases.
- The father's suppressed response suggests persistent autonomous testicular sex steroid production into adulthood.
Implications:
- This study highlights the genetic and endocrine basis of familial testotoxicosis in a specific ethnic group.
- It suggests that autonomous gonadal steroidogenesis can continue into adulthood in affected individuals.
- Understanding these mechanisms is crucial for accurate diagnosis and management of precocious puberty.