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Phallic growth after hCG. A clinical index of androgen responsiveness
M C Almaguer1, P Saenger, B L Linder
1Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York.
Insights
Human chorionic gonadotropin (hCG) stimulation tests revealed significant penile growth in neonates with ambiguous genitalia. This androgen response supports male sex assignment for genetic males with microphallus.
Area of Science:
- Pediatric Endocrinology
- Reproductive Medicine
- Genetics
Background:
- Ambiguous genitalia in neonates presents diagnostic and management challenges.
- Understanding androgen responsiveness is crucial for sex assignment in 46,XY infants with microphallus.
Observation:
- Six neonates with 46,XY karyotype, microphallus, and ambiguous genitalia underwent a three-day human chorionic gonadotropin (hCG) stimulation test.
- Patients had no identified steroidogenesis enzyme defects or 5 alpha-reductase deficiency.
Findings:
- All neonates demonstrated penile growth ranging from 0.25 to 0.75 cm within five days of hCG administration.
- Four out of six patients achieved normal penile length (> 2.0 cm) within 48 hours post-hCG treatment.
- The study indicates significant androgen responsiveness to hCG in this cohort.
Implications:
- Penile growth in response to hCG suggests sufficient androgenic activity.
- Positive phallic growth response may aid in supporting male sex assignment decisions.
- Further research can explore long-term outcomes and optimal management strategies.
Abstract:
Clinical and hormonal responses to a standard three-day human chorionic gonadotropin (hCG)-stimulation test (1,500 IU given intramuscularly for three days) were studied in six neonates with ambiguous genitalia. All patients were eventually determined to be 46,XY genetic males with a microphallus and various other genital abnormalities. None had an enzymatic defect in steroidogenesis or a 5 alpha-reductase deficiency, as determined by standard adrenocorticotropic hormone (ACTH) and hCG testing. All patients demonstrated penile growth (0.25 to 0.75 cm) within five days of hCG administration, with four of six patients achieving a normal penile length (> 2.0 cm) by 48 hours after the last of three daily hCG injections. Androgen responsiveness suggested by phallic growth may help support a male sex assignment in such infants.