Androgen insensitivity syndrome differential diagnosis
|
Androgen insensitivity syndrome Microchapters |
|
Differentiating Androgen insensitivity syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Androgen insensitivity syndrome differential diagnosis On the Web |
|
American Roentgen Ray Society Images of Androgen insensitivity syndrome differential diagnosis |
|
FDA on Androgen insensitivity syndrome differential diagnosis |
|
CDC on Androgen insensitivity syndrome differential diagnosis |
|
Androgen insensitivity syndrome differential diagnosis in the news |
|
Blogs on Androgen insensitivity syndrome differential diagnosis |
|
Directions to Hospitals Treating Androgen insensitivity syndrome |
|
Risk calculators and risk factors for Androgen insensitivity syndrome differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
Androgen insensitivity syndrome should be differentiated from other more common forms of male undervirilization, including Leydig cell hypoplasia, several uncommon defects of testosterone synthesis, and 5α-reductase deficiency which can produce similar genital anatomy.
Differentiating Androgen insensitivity syndrome from other Diseases
- Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is diagnosed in phenotypic females who exhibit amenorrhea and have a partial or complete absence of the cervix, uterus, and vagina. Individuals with MRKH can be distinguished from those with CAIS by confirmation of a 46,XX karyotype. [1]
- Hypospadias resulting from an AR pathogenic variant (and thus a part of the spectrum of PAIS) cannot be distinguished from hypospadias resulting from other (largely undefined) causes by the examination of the genitalia alone. AR variants associated with hypospadias are likely rare.
- MAIS caused by single-nucleotide variants of AR may be clinically indistinguishable from MAIS caused by expansion of the polymorphic CAG repeat in AR. Pathogenic expansion of this triplet repeat is the cause of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease (see Genetically Related Disorders).
- Undermasculinization of the external genitalia and pubertal undervirilization are components of many different syndromes that have no etiologic relation to AR. They may or may not have a pathogenic relation to the androgen receptor protein. The one exception is a contiguous gene deletion syndrome that includes the AR locus and results in intellectual disability and genital abnormalities.
- 46,XY infants born small for gestational age may have clinical features of PAIS with no identifiable AR pathogenic variant. It has been suggested that this association be termed ‘XY DSD with fetal growth restriction, as yet unexplained.
- Defciency of the 5α-reductase enzyme: Individuals with a defciency in the 5α-reductase enzyme have a blockage during the biosynthesis of testosterone to DHT. These individuals have internal male genitalia (testosterone dependent) and no external genitalia (DHT dependent). Furthermore, they are sexually ambiguous at birth. However, in some, they are entirely female, and virilization occurs during puberty. Patients with 5α-reductase enzyme defciency are diagnosed by confrming the 5α-reductase defciency in fbroblast cultures or by sequencing the SRD5A2 gene. [2]
- Leydig cell agenesis due to LH receptor anomalies: Individuals with Leydig cell agenesis due to LH receptor anomalies present with sexual ambiguity at birth or with primary amenorrhea and a complete lack of the development of sexual characteristics during puberty. The karyotype of these individuals is 46,XY. Furthermore, the level of testosterone is decreased and the level of LH is elevated in these patients. Leydig cell agenesis due to LH receptor anomalies is diagnosed by detecting mutations in the LHCGR gene. [2]
- Monosomy 45,X (Turner syndrome): Monosomy 45,X is clinically characterized by a delay in the development of puberty, short stature, pterygium colli, a shield chest and primary amenorrhea. Individuals that are mosaic for 45,X and 46,XX may have normal height, menstruate, and become pregnant. [2]
- Klinefelter syndrome
- Mutations in SRY, NR5A1, WT1
- 17,20-lyase deficiency
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
- Congenital Adrenal Hyperplasia
- 17beta-hydroxysteroid dehydrogenase deficiency type 3
- Frasier syndrome
- 17-Hydroxylase Deficiency Syndrome
- p450 oxidoreductase deficiency
- Mutations in the luteinizing hormone receptor
- Smith-Lemli-Opitz syndrome
- Denys-Drash syndrome
References
- ↑ Londra L, Chuong FS, Kolp L (2015). "Mayer-Rokitansky-Kuster-Hauser syndrome: a review". Int J Womens Health. 7: 865–70. doi:10.2147/IJWH.S75637. PMC 4636170. PMID 26586965.
- ↑ 2.0 2.1 2.2 Mendoza N, Motos MA (2013). "Androgen insensitivity syndrome". Gynecol Endocrinol. 29 (1): 1–5. doi:10.3109/09513590.2012.705378. PMID 22812659.