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]

All cases of PAIS presented within the first month of birth. The median age at presentation of children with CAIS was 1 yr (P10,P90: 0.1,10.4). [scienceopen.com]

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]

• Inflammation

  Kadono Y, Ueno S, Makino T, Ofude M, Izumi K, Gabata T, Namiki M Anticancer research 34(10) 5523-5528 Oct 2014 [Refereed] Androgen receptor and immune inflammation in benign prostatic hyperplasia and prostate cancer. [researchmap.jp]

• Pelvic Mass

  Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. [ncbi.nlm.nih.gov]

• Hyperactivity

  Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within [ijph.tums.ac.ir]

• 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]

• Dyslipidemia

  We report a case of CAIS in a 22-year-old female accompanying central obesity, dyslipidemia, and diabetes mellitus. [ncbi.nlm.nih.gov]

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]