Skip to main content
SpringerLink
Log in

Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association

  • Case Report
  • Published:
Journal of Endocrinological Investigation Aims and scope Submit manuscript

Abstract

Most patients with male pseudohermaphroditism (MPH) due to 17-ketosteroid reductase (17-KSR) deficiency were diagnosed at or after puberty when significant virilization occurred. We report 2 prepubertal sibs (Case 1, 4 yr and Case 2, 10 yr) unambiguously raised as females, with clitoral enlargement, separate urethral and vaginal orifices and gonads palpable at the inguinal canal bilaterally. Basal serum LH, FSH, 17-hydroxyprogesterone, testosterone (T), Dihydrotestosterone and dehydroepiandrosterone (DHEA) were normal for age. †4-Androstenedione (†4-A) was slightly elevated in Case 2 but nondiagnostic. Steroid measurements after human chorionic gonadotropin (hCG) stimulation were compared with those of boys with male external genitalia submitted to the same hCG protocol: peak T was subnormal (Case 1, 80, Case 2, 91, vs normal 329 ± 129 ng/dl, mean ± 1SD), peak †4-A elevated (Case 1, 477, Case 2,264, vs normal 44 ± 26 ng/dl) resulting in an abnormally elevated †4-A/T ratio (Case 1, 6.0, Case 2,2.9, vs normal 0.12 ± 0.09) and establishing the diagnosis of 17-KSR deficiency. This diagnosis was confirmed in vitro by minimal T production when testicular tissue of both patients was incubated with tritiated †4-A. The 2 sibs did not share a single haplotype for the HLA complex indicating lack of association between HLA and the locus of the gene for 17-KSR. In conclusion, in 2 sibs with MPH the subnormal T and elevated †4-A response to the hCG test indicated the diagnosis of 17-KSR deficiency followed by orchiectomy to avoid later virilization at puberty.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Forest M.G. Inborn errors of testosterone biosynthesis. In: Josso N. (Ed.), The Intersex child. Karger, Basel, 1981, p. 133.

  2. Virdis R., Saenger P. 17-Hydroxysteroid dehydrogenase deficiency. In: Levine L., New M.I., (Eds.), Adrenal diseases in childhood. Karger, Basel, 1984, p. 110.

    Google Scholar 

  3. Ulloa-Aguirre A., Bassol S., Poo J., Mendez J.P., Mutchinick O., Robles C., Pérez-Palacios G. Endocrine and biochemical studies in a 46, XY phenotypically male infant with 17-ketosteroid reductase deficiency. J. Clin. Endocrinol. Metab. 60: 639, 1985.

    Article  CAS  PubMed  Google Scholar 

  4. Imperato-McGinley J., Peterson R.E., Stoller R., Goodwin W.E. Male pseudohermaphroditism secondary to 17 β-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J. Clin. Endocrinol. Metab. 49: 391, 1979.

    Article  CAS  PubMed  Google Scholar 

  5. Rösier A., Kohn G. Male pseudohermaphroditism due to 17 β-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role. J. Steroid Biochem. 19: 663, 1983.

    Article  Google Scholar 

  6. Levine L.S., Lieber E., Pang S., New M.I. Male pseudohermaphroditism due to 17-ketosteroid reductase deficiency diagnosed in the newborn period. Abstract 329. Pediatr. Res. 14: 480, 1980.

    Google Scholar 

  7. Harkness R.A., Thistlethwaite D., Darling J.A.B., Skakkebaek N.E., Corker CS. 17 β-hydroxysteroid oxidoreductase deficiency causing male pseudohermaphroditism in a child. J. Endocrinol. 67: 16 P, 1975.

    Google Scholar 

  8. Balducci R., Toscano V., Wright F., Bozzolan F., Di Piero G., Maroder M., Panei P., Sciarra F., Boscherini B. Familial male pseudohermaphroditism with gynaecomastia due to 17 β-hydroxysteroid dehydrogenase deficiency. A report of 3 cases. Clin. Endocrinol. (Oxf.) 23: 439, 1985.

    Article  CAS  Google Scholar 

  9. Gross D.J., Landau H., Kohn G., Farkas A., Elrayyes E., El-Shawwa R., Lasch E., Rösler A. Male pseudohermaphroiditism due to 17 β-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy. Acta Endocrinol. (Copenh.)112: 238, 1986.

    CAS  Google Scholar 

  10. Abraham G.E. Radioimmunoassay of steroids in biological materials. Acta Endocrinol. (Suppl. 183) (Copenh.) 75: 1, 1974.

    Google Scholar 

  11. Goldman A.S., Baker M.K., Stanek A.E. Development of †5-3-hydroxysteroid and glucose-6-phosphate dehydrogenase in the testis, adrenal and ovaries of the rabbit fetus. Proc. Soc. Exp. Biol. 140: 1486, 1972.

    Article  CAS  PubMed  Google Scholar 

  12. Wilson J.D., Walker J.D. The conversion of testosterone to dihydrotestosterone by skin slices of man. J. Clin. Invest. 48: 371, 1969.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Mittal K.K., Mickey M.R., Singal D.P., Terasaki P.I. Refinement of microdroplet lymphocyte cytotoxicity test. Transpianation 6: 913, 1968.

    Article  CAS  Google Scholar 

  14. Forest M.G., David M., Lecoq A., Jeune M., Bertrand J. Kinetics of the hCG-induced steroidogenic response of the human testis. III. Studies in children of the plasma levels of testosterone and hCG: rationale for testicular stimulation test. Pediatr. Res. 14: 819, 1980.

    Article  CAS  PubMed  Google Scholar 

  15. Peterson R.E, Imperato McGinley J. Male pseudohermaphroditism due to deficiencies of testosterone biosynthesis. In: Serio M., Motta M., Zanisi M., Martini L. (Eds.), Sexual differentiation: basic and clinical aspects. Raven Press, New York, 1984, p. 301.

    Google Scholar 

  16. Saez J.M., Morera A.M., DePeretti E., Bertrand J. Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization). J. Clin. Endocrinol. Metab. 34: 598, 1972.

    Article  CAS  PubMed  Google Scholar 

  17. Givens J.R, Wiser W.L., Summit R.L., Kerber I.J., Andersen R.N., Pittaway D.E., Fish S.A. Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. N.Engl. J. Med. 291: 938, 1974.

    Article  CAS  PubMed  Google Scholar 

  18. Saez J.M., De Peretti E., Morera A.M., David M., Bertrand J. Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. J. Clin. Endocrinol. Metab. 32: 604, 1971.

    Article  CAS  PubMed  Google Scholar 

  19. Tourniaire J., Laubie B., Saez J., Leung T.K., Perrin J, Dutrieux N., Guinet P. Pseudohermaphrodisme mâle familial par deficit testiculaire en 17-cetostéroide-réductase. Ann. Endocrinol. (Paris) 34: 461, 1973.

    CAS  Google Scholar 

  20. Forest M.G., De Peretti E., Campo-Paysaa A. Cas familial de pseudo-hermaphroidisme masculin par déficit en 17-ceto-réductase: diagnostic tardif chez la “tante” d’un sujet porteur du même déficit. Ann. Endocrinol. (Paris) 40: 545, 1979.

    CAS  Google Scholar 

  21. Goebelsmann U., Horton R., Mestman J.H., Arce J.J., Nagata Y., Nakamura R.M., Thorneycroft I.H., Mishell Jr D.R. Male pseudohermaphroditism due to testicular 17-hydroxysteroid dehydrogenase deficiency. J. Clin. Endocrinol. Metab. 36: 867, 1973.

    Article  CAS  PubMed  Google Scholar 

  22. Lanes R., Brown T.R., Gruber de Bustos E., Valverde B., Pieretti R.B., Bianco N., Ortega G., Migeon C.J. Sibship with 17-ketosteroid reductase (17-KSR) deficiency and hypothyroidism. Lack of linkage of histocompatibility leucocyte antigen and 17-KSR loci. J. Clin. Endocrinol. Metab. 57: 190, 1983.

    Article  CAS  PubMed  Google Scholar 

  23. Goebelsmann U., Hall T.D., Paul W.L., Stancyk F.Z. In vitro steroid metabolic studies in testicular 17 β-reduction deficiency. J. Clin. Endocrinol. Metab. 41: 1136, 1975.

    Article  CAS  PubMed  Google Scholar 

  24. Guénet J.L. Don non-linked genes really reassort at random? Ann. Inst. Pasteur/Immunol. 136 C: 85, 1985.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Gonadal and Intersex Unit, Division of Endocrinology, Department of Medicine, Hospital das Clinicas, University of Sao Paulo School of Medicine, Caixa Postal 8091, Sao Paulo, Brazil

    I. J. P. Arnhold, B. B. Mendonça, J. A. P. Diaz, C. Nogueira, M. C. Batista, G. Madureira, D. Oliveira, W. Nicolau & W. Bloise

Authors
  1. I. J. P. Arnhold
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. B. Mendonça
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. A. P. Diaz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. Nogueira
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. C. Batista
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G. Madureira
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D. Oliveira
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. W. Nicolau
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. W. Bloise
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Arnhold, I.J.P., Mendonça, B.B., Diaz, J.A.P. et al. Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association. J Endocrinol Invest 11, 319–322 (1988). https://doi.org/10.1007/BF03350158

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03350158

Key-words

Search

Navigation