Abstract
Before puberty, the diagnosis of androgen insensitivity syndrome (AIS) can be difficult. We studied whether the decrease of sex hormone-binding globulin(SHBG) during the human chorionic gonadotropin (hCG) test may represent a biochemical test to select prepubertal patients with AIS. We examined prepubertal patients with AIS (n = 9, age 0.9-8.2 y), male pseudohermaphroditism not due to AIS (other-MPH) (n = 8, age 0.6-10.7 y), and control boys (n = 12, age 0.8-12.5 y). Testosterone and SHBG levels (mean ± SD) were measured before (d 0) and after (d 5) a hCG test (1500 IU × 3 d). Testosterone levels (nmol/L) increased in all groups [AIS: from 1.5 ± 1.2 to 22.1 ± 11.8 (p < 0.001); other-MPH: from 0.6 ± 0.6 to 9.2 ± 7.4 (p < 0.02); controls: from 1.8 ± 1.4 to 22.8 ± 14.4 (p < 0.001)]. SHBG concentrations (nmol/L) did not change in AIS [from 66.2± 15.1 to 67.5 ± 18.6 (p = NS), Δ-variation 1.7± 12.7%], whereas they were significantly decreased in other-MPH [from 59.9 ± 14.2 to 46.5 ± 18.6 (p < 0.005),Δ-variation -23.7 ± 19.6%] and controls [from 63.0 ± 16.9 to 33.7 ± 14.6 (p < 0.003), Δ-variation -46.9± 15.2%]. Our data suggest that the SHBG changes during the hCG test can be used to assess in vivo the biologic response to androgens in prepubertal patients with ambiguous genitalia, selecting those patients in whom it is worth performing second level investigations to confirm the AIS diagnosis.
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Abbreviations
- AIS:
-
androgen insensitivity syndrome
- DGGE:
-
denaturing gradient-gel electrophoresis
- hCG:
-
human chorionic gonadotropin
- MPH:
-
male pseudohermaphroditism
- PCR:
-
polymerase chain reaction
- SHBG:
-
sex hormone-binding globulin
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Acknowledgements
The authors acknowledge the children and their parents who made this work feasible; we also appreciate the assistance of Patrizia Gerini in the management of the patients. We are indebted to Dr. T. R. Brown (Johns Hopkins University, School of Medicine, Baltimore) for his helpful suggestions, and are grateful to Dr. P. Simi (U.O. Citogenetica, Azienda Ospedaliera Pisana, Pisa, Italy) for karyotyping some of the patients.
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Supported in part by MURST (Fondi 40%), Rome, Italy.
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Bertelloni, S., Federico, G., Baroncelli, G. et al. Biochemical Selection of Prepubertal Patients with Androgen Insensitivity Syndrome by Sex Hormone-Binding Globulin Response to the Human Chorionic Gonadotropin Test. Pediatr Res 41, 266–271 (1997). https://doi.org/10.1203/00006450-199702000-00018
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DOI: https://doi.org/10.1203/00006450-199702000-00018
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