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Aetiological diagnosis of male sex ambiguity: a collaborative study
Abstract
Unlabelled A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonadal dysgenesis or true hermaphroditism, the incidence of vaginal development was 100%, a uterus was present in 60%; uni or bilateral cryptorchidism was seen in nearly all cases of testicular dysgenesis (99%) but in only 57% of true hermaphrodites. Mean serum levels of anti-mullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS). Mutations in the androgen receptor, 90% within exons 2-8, were detected in patients with PAIS. Clinically, a vaginal pouch was present in 90%, cryptorchidism in 36%. In 52% of cases, no diagnosis could be reached, despite an exhaustive clinical and laboratory work-up, including routine sequencing of exons 2-8 of the androgen receptor. By comparison with PAIS, unexplained male pseudohermaphroditism was characterised by a lower incidence of vaginal pouch (55%) and cryptorchidism (22%) but a high incidence of prematurity/intrauterine growth retardation (30%) or mild malformations (14%).Conclusion reaching an aetiological diagnosis in cases of male intersex is difficult because of the variability of individual cases. Hormonal tests may help to discriminate between partial androgen insensitivity and gonadal dysgenesis/true hermaphroditism but are of less use for differentiating from unexplained male pseudohermaphroditism. Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded.
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“Hyperandrogenic 46, XY DSD female athletes in the 2011 IAAF World Championships were 140 times more prevalent (0.7% of athletes had testosterone concentrations of > 15.6 nmol/L [20]) compared to 0.005% [20, 21] reported in the general population [22, 23]”
From Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement (2021) · cites this paper as [21]
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“In contrast, only 50% of 46 XY children with DSD will receive a definitive diagnosis [36,37].”
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Metadata
- Authors
- Morel, Y., Rey, R., Teinturier, C., Nicolino, M., Michel-Calemard, L., Mowszowicz, I., Jaubert, F., Fellous, M., Chaussain, J.-L., Chatelain, P., David, M., Nihoul-Fékété, C., Forest, M. G., & Josso, N.
- Affiliations
- Inserm (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- Hôpital Debrousse (FR)
- Hôpital Necker-Enfants Malades (FR)
- Institut Pasteur (FR)
- Hôpital Lyon Sud (FR)
- Corresponding author
- Josso, Nathalie
- Venue
- European Journal of Pediatrics
- Published
- 2001-11-07
- Volume
- 161
- Issue
- 1
- Pages
- 49-59
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2163336822
- Cited by
- 133
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 1 · 2022: 3 · 2021: 5 · 2020: 6 · 2019: 6 · 2018: 3 · 2017: 6 · 2016: 4 · 2015: 6 · 2014: 7 · 2013: 9 · 2012: 7
- FWCI
- 1.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- 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
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- intersex disorders, etiological diagnosis, partial androgen insensitivity syndrome, gonadal dysgenesis, true hermaphroditism, cryptorchidism, androgen receptor mutations, anti-Müllerian hormone, XY karyotype, testicular dysgenesis, preterm birth
- MeSH terms
- Cryptorchidism, Diagnosis, Differential, Europe, Glycoproteins, Gonadal Dysgenesis, Chorionic Gonadotropin, Growth Inhibitors, Humans, Infant, Karyotyping, Male, Receptors, Androgen, Disorders of Sex Development, Testicular Hormones, Testis, Testosterone, Anti-Mullerian Hormone
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