Androgen insensitivity syndrome: a review.
Androgen insensitivity syndrome
Androgen receptor
Androgen resistance
Testosterone
Journal
Journal of endocrinological investigation
ISSN: 1720-8386
Titre abrégé: J Endocrinol Invest
Pays: Italy
ID NLM: 7806594
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
01
02
2023
accepted:
31
05
2023
medline:
23
10
2023
pubmed:
10
6
2023
entrez:
10
6
2023
Statut:
ppublish
Résumé
Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes. We performed a literature review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management. AIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). Laboratory tests showing elevated LH and testosterone levels despite mild or absent virilization may be helpful, but diagnosis can be achieved only after genetic testing (karyotype examination and androgen receptor sequencing). The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management. For the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.
Identifiants
pubmed: 37300628
doi: 10.1007/s40618-023-02127-y
pii: 10.1007/s40618-023-02127-y
doi:
Substances chimiques
Receptors, Androgen
0
Androgens
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2237-2245Subventions
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : 2017S9KTNE_003
Informations de copyright
© 2023. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).
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