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Deficiency of 17-ketoreductase presenting before puberty
J W Gregory1, A Aynsley-Green, B A Evans
1Department of Child Health, University of Newcastle upon Tyne.
Hormone Research
|January 1, 1993
Summary
Diagnosis of 17-ketoreductase deficiency in infants is challenging. This study highlights key diagnostic indicators in prepubertal children with disorders of sex development, including specific hormonal responses.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- 17-ketoreductase deficiency diagnosis is typically post-pubertal.
- Prepubertal diagnosis data for 17-ketoreductase deficiency is limited.
- Disorders of Sex Development (DSD) require early diagnosis for appropriate management.
Observation:
- Two 46,XY infants with female external genitalia, inguinal hernias, and palpable gonads were studied.
- Gonadal biopsy revealed testicular tissue; both had a short vagina and absent uterus.
- Infants presented with ambiguous genitalia, necessitating further investigation.
Findings:
- Human chorionic gonadotropin (hCG) stimulation test revealed minimal plasma testosterone but a marked androstenedione response, confirming 17-ketoreductase deficiency.
- Androgen receptor deficiency was identified in one case via genital skin fibroblast studies.
- Elevated androstenedione levels are a key indicator in prepubertal 17-ketoreductase deficiency.
Implications:
- Early diagnosis of 17-ketoreductase deficiency in infants is possible with specific hormonal testing.
- Findings suggest a potential link between androgen deficiency and failed androgen receptor induction.
- This research aids in understanding and managing DSD in early childhood.