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Familial male pseudohermaphroditism
A C Ammini1, D C Sharma, R Gupta
1Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Indian Journal of Pediatrics
|May 1, 1997
Summary
This study details two siblings with familial male pseudohermaphroditism, likely caused by 17,20-desmolase deficiency. The condition affects sexual development in 46 XY individuals, presenting with varied genitalia and hormonal imbalances.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Endocrinology
Background:
- Familial male pseudohermaphroditism (MPH) is a rare disorder of sexual development.
- 17,20-desmolase deficiency is an uncommon cause of MPH, impacting steroidogenesis.
Observation:
- Two siblings with 46 XY karyotype presented with MPH.
- The first sibling had female external genitalia and hypergonadotropic hypogonadism; the second had ambiguous genitalia.
- Both siblings exhibited elevated 17-hydroxyprogesterone (17 OHP) and low testosterone and dehydroepiandrosterone sulfate (DHEAS).
Findings:
- Hormonal profiles showed no response to ACTH or HCG stimulation, supporting a diagnosis of 17,20-desmolase deficiency.
- Histological examination confirmed the presence of testes in the first sibling.
- Clinical and biochemical findings were consistent with impaired steroid 17,20-desmolase activity.
Implications:
- This case highlights the importance of considering 17,20-desmolase deficiency in the differential diagnosis of MPH.
- Early diagnosis and management are crucial for affected individuals.
- Further research into the genetic basis and therapeutic strategies for this rare condition is warranted.