To present a rare case of a patient probably with complete androgen insensitivity syndrome (CAIS) and studied its potential genetic cause. A 24-year-old woman with a normal-appearing vulva and vagina presented to us because of primary amenorrhea. [ncbi.nlm.nih.gov]

Clinical description The typical presentation is primary amenorrhea in an adolescent female. CAIS may also present in infancy or childhood with an inguinal hernia or labial swelling containing a testis. [orpha.net]

• Fishing

  FISH analysis demonstrated that a BAC clone containing the androgen receptor gene was disrupted by the inversion. We therefore hypothesize that disruption of the androgen receptor gene causes CAIS in this patient. [ncbi.nlm.nih.gov]

  Both CAIS and Swyer syndrome are associated with a 46,XY karyotype, whereas MRKH is not; MRKH can thus be ruled out by checking for the presence of a Y chromosome, which can be done either by fluorescence in situ hybridization (FISH) analysis or on full [en.wikipedia.org]

  Alternatively, the presence of a Y chromosome can be confirmed by fluorescent in situ hybridization (FISH) probes for either the SRY region of the Y chromosome or a subtelomeric Y chromosome probe. [emedicine.com]

  […] syndrome or MRKH). [1] [24] Both CAIS and Swyer syndrome are associated with a 46,XY karyotype, whereas MRKH is not; MRKH can thus be ruled out by checking for the presence of a Y chromosome, which can be done either by fluorescence in situ hybridization (FISH [ipfs.io]

• Aspiration

  Because of the size of the lesion and the patient's hormonal make-up, a fine needle aspirate was obtained. [ncbi.nlm.nih.gov]

  Poor self-management after surgery could permanently frustrate the patient's aspirations for normalizing the vagina, because effectiveness of future reconstruction could be compromised due to surgical scarring. [doi.org]

• Sparse to No Axillary Hair

  BACKGROUND: The complete androgen insensitivity (testicular feminization) syndrome was described in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or sparse pubic or axillary hair. [ncbi.nlm.nih.gov]

• Sparse to Absent Axillary and Pubic Hair

  Karyotypic male individuals with CAIS have unambiguously female external genitalia, sparse or absent axillary and pubic hair, a blindly-ended vagina (which may be shortened or, less often, of normal depth), no uterus and normal breast development at puberty [humpath.com]

• Dry Eyes

  Decreased mucin levels contribute in explaining the tear film instability in CAIS and should be considered an additional cause of dry eye in sex steroid hormone pathology. [ncbi.nlm.nih.gov]

  Our results demonstrate that CAIS is associated with meibomian gland alterations and a significant increase in dry eye signs and symptoms. [doi.org]

  eye syndromes and light sensitivity). [en.wikipedia.org]

  eye syndromes and light sensitivity ). [46] Comorbidity Histopathology of testicular tissue showing immature germ cells and spermatagonia with decreased tubular diameter. [ipfs.io]

• Clitoral Hypoplasia

  Hospital case notes review, and genital examination for prevalence of vaginal and clitoral hypoplasia. [citeseerx.ist.psu.edu]

  Self-completed survey of sexual function, genital normality perceptions, and compliance and satisfaction with vaginal hypoplasia treatments. Hospital case notes review, and genital examination for prevalence of vaginal and clitoral hypoplasia. [ncbi.nlm.nih.gov]

• Vaginal Discharge

  Other specific complications may include offensive vaginal discharge ( Kwun et al., 2003 ) and diversion colitis ( Syed et al., 2001 ; Abbasakoor et al., 2004 ). [doi.org]

Bilateral gonadectomy was performed but a short period of estrogen treatment induced a negative emotional reaction and treatment was stopped. Since the age of 3, childhood-onset cross gender behavior had been noticed. [ncbi.nlm.nih.gov]

Although dilation without surgery may have fewer risks and appear to be an obvious first line treatment, the treatment can be arduous and unpleasant for some patients. [doi.org]

Treatments for vaginal hypoplasia need to be evaluated with outcome studies of long-term sexual function, quality of life, and satisfaction. [citeseerx.ist.psu.edu]

Prognosis Prognosis for patients with CAIS is favorable if support and counseling are appropriate. Adults have normal female gender identity. Patients are infertile and have an increased risk of osteoporosis if hormone replacement is inadequate. [orpha.net]

The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time. For PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex. [doi.org]

A novel androgen receptor gene mutation in the ligand binding domain was detected in the present patient with CAIS, supporting the important role of an androgen receptor defect in the etiology of CAIS. [ncbi.nlm.nih.gov]

Etiology The condition is due to mutations in the androgen receptor ( AR ) gene which is located on the long arm of the X-chromosome (Xq11-12). The AR is a nuclear transcription factor comprising three functional domains. [orpha.net]

Summary Epidemiology The estimated incidence is between 1/20,000 and 1/99,000 live male births. Clinical description The typical presentation is primary amenorrhea in an adolescent female. [orpha.net]

Additional Contributors Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology Arlan [emedicine.com]

Since his initial description, studies of the endocrinology, pathophysiology, biochemistry, and molecular biology of the androgen insensitivity syndrome (AIS) have provided insights into the role of androgens in male sex differentiation, the mechanisms [doi.org]

[…] hormones. ( 30075955 ) Sandberg DE 2018 19 Static computer-aided implant surgery (s-CAIS) analysing patient-reported outcome measures (PROMs), economics and surgical complications: A systematic review. ( 30328203 ) Joda T...Kuehl S 2018 20 Update on the Pathophysiology [malacards.org]

Androgen receptor (AR) pathophysiological roles in androgen-related diseases in skin, bone/muscle, metabolic syndrome and neuron/immune systems: lessons learned from mice lacking AR in specific cells. Nucl Recept Signal, 11:e001. [ijph.tums.ac.ir]

Patients with premature stop codons or frameshift mutations, which prevented androgen receptor expression, or DNA-binding domain mutations that abolished transcriptional activity did not have epididymides or vasa deferentia. [ncbi.nlm.nih.gov]

As patient was in postpubertal age group and willing for surgery, laparoscopic gonedectomy was carried out to prevent malignant transformation of gonads. [jhrsonline.org]

Vaginal dilators are required postoperatively to prevent vaginal stenosis from scarring. Other complications include bladder and bowel injuries. [en.wikipedia.org]