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Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome
R Pankau1, C J Partsch, J Funda
1Department of Pediatrics, University Hospital of Kiel, Germany.
American Journal of Medical Genetics
|June 1, 1992
Summary
This study investigated hypothalamic-pituitary-gonadal function in male infants with Smith-Lemli-Opitz syndrome, finding normal hormonal levels despite genital abnormalities. Further research is needed to determine the cause of pseudohermaphroditism in SLO syndrome.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Smith-Lemli-Opitz syndrome (SLO) is a genetic disorder affecting cholesterol biosynthesis.
- Male infants with SLO often present with genital malformations, raising questions about endocrine function.
Observation:
- Two male infants with SLO syndrome exhibited abnormal external genitalia.
- Hormonal assessments included basal and LHRH-stimulated gonadotropins, testosterone, androstenedione, and dehydroepiandrosterone sulfate.
Findings:
- Plasma gonadotropins and androgens were within normal ranges for age and sex in both infants.
- Hormonal studies excluded specific forms of congenital adrenal hyperplasia, indicating normal adrenal steroid biosynthesis.
- Hypothalamic-pituitary-gonadal function appeared normal in these patients.
Implications:
- The findings suggest that the genital malformations in SLO syndrome may stem from causes other than generalized HPG axis dysfunction or common CAH forms.
- A partial androgen receptor defect is considered a possibility for the observed genital abnormalities in one patient.
- Further investigation into 5-alpha-reductase deficiency is warranted to explore its role in male pseudohermaphroditism within SLO syndrome.