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Cited by 136Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesUrological Disorders and Treatments

The DOI matches its Crossref record.

Aetiological diagnosis of male sex ambiguity: a collaborative study

Morel, Yves, Rey, Rodolfo, Teinturier, Cécile, Nicolino, Marc, Michel-Calemard, Laurence, Mowszowicz, Irène, Jaubert, Francis, Fellous, Marc, Chaussain, Jean-Louis, Chatelain, Pierre, David, Michel, Nihoul-Fékété, Claire, Forest, Maguelone G., Josso, Nathalie·2002·European Journal of Pediatrics
DOI 10.1007/s00431-001-0854-z
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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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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
ORCID
Venue
European Journal of Pediatrics
Publisher
Springer Science and Business Media LLC
Published
2001-11-07
Volume
161
Issue
1
Pages
49-59
ISSN
  • 0340-6199 (ISSN-L)
  • 1432-1076
DOI
10.1007/s00431-001-0854-z
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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