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Related Concept Videos

The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
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A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
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Androgen insensitivity syndrome: a review.

E Delli Paoli1, S Di Chiano1, D Paoli1

  • 1Laboratory of Seminology‑Sperm Bank "Loredana Gandini", Department of Experimental Medicine, "Sapienza" University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.

Journal of Endocrinological Investigation
|June 10, 2023
PubMed
Summary

Androgen insensitivity syndrome (AIS) is a genetic disorder causing androgen resistance in 46 XY individuals. Diagnosis requires genetic testing, and management necessitates a multidisciplinary approach for optimal patient outcomes.

Keywords:
Androgen insensitivity syndromeAndrogen receptorAndrogen resistanceTestosterone

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Androgen insensitivity syndrome (AIS) is a disorder of sexual development (DSD) in 46 XY individuals.
  • It stems from peripheral androgen resistance caused by androgen receptor mutations.
  • The spectrum of phenotypes ranges from complete to mild, depending on hormone resistance severity.

Purpose of the Study:

  • To review the etiopathogenesis, molecular alterations, and diagnostic-therapeutic management of AIS.
  • To highlight the genetic basis and phenotypic variability of AIS.
  • To emphasize the importance of accurate diagnosis and management strategies.

Main Methods:

  • Literature review using the Pubmed database.
  • Focus on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
  • Analysis of genetic mutations and their correlation with phenotypic presentation.

Main Results:

  • AIS is caused by diverse X-linked mutations, leading to a wide phenotypic spectrum.
  • Clinical suspicion can arise in infancy (partial AIS) or puberty (complete AIS).
  • Diagnosis is confirmed by karyotype and androgen receptor sequencing; elevated LH and testosterone levels can be indicative.

Conclusions:

  • Accurate diagnosis of AIS relies on genetic testing.
  • Management decisions, particularly sex assignment, guide subsequent medical, surgical, and psychological care.
  • A multidisciplinary team approach is crucial for supporting patients and families in gender identity choices and therapeutic decisions.