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Cited by 139Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesLGBTQ Health, Identity, and Policy

The DOI matches its Crossref record; 50 of the 50 references it cites were found in a registry or an index.

Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management

Mendonca, Berenice B., Inacio, Marlene, Arnhold, Ivo J. P., Costa, Elaine M. F., Bloise, Walter, Martin, Regina M., Denes, Francisco T., Silva, Frederico A. Q., Andersson, Stefan, Lindqvist, Annika, Wilson, Jean D.·2000·Medicine
DOI 10.1097/00005792-200009000-00003
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Abstract

Ten male pseudohermaphrodites with 17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency were evaluated in 1 clinic with an average follow-up of 10.1 years. The diagnoses were made by demonstrating low to normal serum testosterone levels, high androstenedione levels, and high ratios of serum androstenedione to testosterone in the basal state or after treatment with human chorionic gonadotropin. The molecular features of the underlying mutations were identified in all 7 families. Two additional males in the same families are believed to be affected on the basis of history obtained from family members. All of the 46,XY individuals in these families were registered at birth and raised as females (despite the presence of ambiguous genitalia in all or most), and all virilized after the time of expected puberty due to a rise in serum testosterone to or toward the normal male range. The age at diagnosis varied from 4 to 37 years. Ten individuals were studied by the same psychologist, and change of gender role (social sex) from female to male occurred in 3 subjects and in the 2 presumed affected subjects not studied. The individual with the highest serum testosterone level maintained female sexual identity, and in 2 families some of the affected males changed gender role and others did not. Thus, while androgen action plays a role in the process, additional undefined psychological, social, and/or biologic factors must be determinants of gender identity/role behavior. Management of the 7 individuals who chose to maintain female sex roles included castration, clitoroplasty, vaginal enlargement procedures when appropriate, treatment of hirsutism, cricoid cartilage reduction, and estrogen replacement. Three of the 7 are married (2 twice), 1 is involved in a long-term heterosexual relationship, 1 is engaged to be married, and the other 2 are not married and not believed to be sexually active. The 3 subjects who changed gender role behavior to male underwent hypospadias repair, and 1 was given supplemental testosterone therapy. One of these men is divorced, and the other 2 (aged 29 and 35 years) are unmarried. The diagnosis in 8 of these subjects was made after the time of expected puberty; it is unclear whether the functional and social outcomes would have been different if the diagnosis had been made and therapy begun earlier in life.

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Research works printed but not linked: 17

  1. Andersson, 1996, J Clin Endocrinol Metab, 81, 130
  2. Boehmer, 1999, J Clin Endocrinol Metab, 84, 4713
  3. Brito, 1999, J Clin Endocrinol Metab, 84, 3539
  4. Can, 1998, J Clin Endocrinol Metab, 83, 560
  5. David, 1997, Horm Res, 48, Abstract 529
  6. Forest, 1979, Ann Endocrinol (Paris), 40, 545
  7. Forest, 1984, Pediatr Res, 19, 624
  8. Grumbach, 1999, J Clin Endocrinol Metab, 84, 4677
  9. Levine, 1980, Pediatr Res, 14, 480
  10. Mendonca, 1999, J Clin Endocrinol Metab, 84, 802
  11. Moghrabi, 1998, J Clin Endocrinol Metab, 83, 2855
  12. Nivelon, 1985, J Genet Hum, 33, 179
  13. Quigley, 1995, Endocr Rev, 16, 271
  14. Rosler, 1992, J Clin Endocrinol Metab, 75, 773
  15. Rosler, 1996, J Clin Endocrinol Metab, 81, 1827
  16. Tourniaire, 1973, Ann Endocrinol (Paris), 34, 461
  17. Wilson, 1993, Endocr Rev, 14, 577

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Metadata

Authors
Mendonca, B. B., Inacio, M., Arnhold, I. J. P., Costa, E. M. F., Bloise, W., Martin, R. M., Denes, F. T., Silva, F. A. Q., Andersson, S., Lindqvist, A., & Wilson, J. D.
Affiliations
Universidade de São Paulo (BR)
ORCID
Venue
Medicine
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2000-09
Volume
79
Issue
5
Pages
299-309
ISSN
0025-7974 (ISSN-L)
DOI
10.1097/00005792-200009000-00003
OpenAlex
W1976932391
Cited by
139
References
50
Citations by year
2025: 5 · 2024: 3 · 2023: 6 · 2022: 5 · 2021: 4 · 2020: 4 · 2019: 2 · 2018: 5 · 2017: 3 · 2016: 31 · 2015: 7 · 2014: 3 · 2013: 4 · 2012: 6
FWCI
0.97
Type
journal article
Language
en
Open access
closed
Locations
  • Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institute of Diabetes and Digestive and Kidney Diseases (DK52167, R01DK052167)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
Keywords
46,XY disorders of sex development, androgen insensitivity syndrome, human chorionic gonadotropin stimulation, gender identity, gender role change, castration, clitoroplasty, estrogen replacement therapy, testosterone replacement therapy, hypospadias repair, hirsutism, psychological assessment
MeSH terms
Adolescent, Adult, Androstenedione, Child, Follow-Up Studies, Follicle Stimulating Hormone, Humans, Luteinizing Hormone, Male, Disorders of Sex Development, Testosterone, 17-Hydroxysteroid Dehydrogenases

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