Androgen Insensitivity Syndrome-A Case Report (original) (raw)
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A case of partial androgen insensitivity syndrome with undescended testis and clitoromegaly
International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2023
Androgen insensitivity syndrome is a rare disorder of sex development that results from genetic mutations affecting the androgen receptor. Recently, we encountered a case of a 13-year-old individual who had been raised as female and sought medical attention for primary amenorrhea, which led to the discovery of partial androgen insensitivity syndrome. Early detection and gonad removal are necessary to mitigate the risk of cancer. Additional management steps such as corrective surgery and psychological support can also be valuable.
Complete Androgen Insensitivity Syndrome in an Adult -A Rare Entity CASE REPORT
Introduction: Androgen insensitivity syndrome is a rare disorder affecting androgen receptor gene in individuals with XY karyotype. It is an X linked recessive disorder. It is characterized by resistance of male human cells to respond to andro-gens resulting in female phenotype due to androgen receptor gene mutation. They have normal female external genitalia, normal breasts but no mullerian duct derivatives with testis in abdominal or inguinal location. They present with bilateral inguinal hernia in females, primary amenorrhea or infertility. Malignant transformation of testis is a risk factor in these individuals. Diagnosis is done by clinical features, imaging, laboratory findings and karyotyping. Management is multidisciplinary approach which includes disclosure of condition to the patient at appropriate age, vaginoplasty for sexual activity, gonadectomy and hormone replacement therapy. Case Report: We report a case of a female of age 20yrs with complaints of infertility. On investigating there are no mulle-rian duct derivatives and no ovaries or testis. Final diagnosis was done with karyotyping which showed XY karyotype. Conclusion: Ultrasound is initial method of investigation for evaluation of mullerian structures. However MRI is gold standard investigation. Medical and surgical care forms part of management.
Complete androgen insensitivity syndrome: Review of four cases
Central European Journal of Medicine, 2012
Background: The Detection of the Complete Androgen Insensitivity Syndrome is not simple since diagnostic can start from different points, depending on clinical features. Case Presentation: Four cases of complete androgen insensitivity syndrome are presented through diagnostic modalities and therapeutic approaches. The initial reasons for investigation were as follows: prenatal amniocentesis being in conflict with the postnatal phenotype, secondary clinical finding, testicle finding during hernia repair, and post pubertal primary amenorrhea. Complete chromosomal, hormonal and ultrasonographical investigations were performed in all patients. Laparoscopy or open inguinal approaches were performed for gonadectomy in all patients, and the microscopic finding was testicular tissue without malignancy. Conclusion: Complete Androgen Insensitivity Syndrome is a type of male pseudohermaphroditism that could be diagnosed as early as in pre-adult age, before any malignant changes appear, and early enough to reach the correct therapy in time.
Androgen Insensitivity Syndrome: A rare genetic disorder
International Journal of Surgery Case Reports, 2020
BACKGROUND: Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder with 46XY karyotype. Partial AIS affects 5-7 per 1,000,000 genetically male individuals whereas Complete AIS affects 2-5 per 100,000 genetically male individuals. CAIS CAIS is characterized by complete resistance to the action of androgens. PRESENTATION OF CASE: 17-year patient presented with swelling in bilateral inguinal region. Patient also complained of primary amenorrhea with serum FSH and LH levels being raised, serum testosterone level much above normal range. MRI Pelvis revealed agenesis of vagina, uterine body, both ovaries and cervix. Bilateral testes were noted in bilateral superficial inguinal ring. Bilateral orchidectomy was done and the patient was advised estrogen substitution therapy. DISCUSSION: CAIS is usually diagnosed at puberty, when the patient presents with primary amenorrhea. Karyotype has to be mapped in order to differentiate from other genetic disorders. Orchidectomy should be done to avoid risk of malignancy of undescended intra-abdominal testes (3.6 % at 25 years old, and 33 % at 50 years old, reported by various studies). Hormonal substitution therapy should be administered. Comprehensive psychiatric assessment and intervention go a long way in alleviating distress and enhancing quality of life. CONCLUSION: Androgen Insensitivity Syndrome requires expert and sympathetic handling. Close collaboration between surgeon, gynaecologist and psychologist is essential for proper management of complete androgen insensitivity syndrome.
Complete androgen insensitivity syndrome – A rare case report
Complete androgen insensitivity syndrome is a rare X linked recessive androgen receptor disorder. The prevalence is estimated at between 1 in 20,000 live male births and 1 in 60,000 live births. This condition involves genotypic males that present with phenotypic characteristics of females.. In patients with this syndrome testicular tumors especially seminoma may develop after puberty. Gonadal malignancies like sertoli cell tumor, yolk sac tumor and sex cord tumors are rare in these patients.
Androgen Insensitivity Syndrome (AIS): A Case History
Ibrahim Cardiac Medical Journal
Androgen Insensitivity Syndrome (AIS) is an inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in - functioning of Y sex chromosome and abnormality on X sex chromosome, where affected individuals have male chromosomes and male gonads with complete or partial feminization of the external genitals. Recently a case of complete Androgen Insensitivity Syndrome (CAIS) is reported at Shaheed Suhrawardy Medical College, Dhaka. A 15 years old school girl was admitted with primary amenorrhea with bilateral inguinal hernia. Diagnosis of complete AIS is confirmed by discovering an adult male testosterone level, 46, XY karyotype, absence of axillary and pubic hair and a shallow vagina, with no cervix or uterus. Ibrahim Cardiac Med J 2014; 4(1): 33-37
46 XY, Female. Complete androgen insensitivity syndrome: a case report
Journal of Education, Health and Sport
Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene. Case report: A female patient born in 1984, at the age of 17, was diagnosed with complete androgen insensitivity syndrome, during the diagnosis of primary amenorrhea. She was assigned grade 7 in the Quigley scale. Cytogenetic analysis showed a 46 XY karyotype. Gynecological examination revealed a blind ending vagina and a lack of uterus. Physical examination revealed normal breast development and scanty pubic and axillary hair. The patient kept seeing herself as a woman. At the age of 18, the patient underwent laparoscopic gonadectomy. After the procedure, the patient was under medical supervision and was taking orally 1 mg of estradiol daily. At the age of 24 patient was diagnosed with. The patient received sodium alendronate and ibandronic acid. The level of FSH was 35.50 mlU / ml and LH was 13.05 mlU/ml. Discussion: Quigley...
IOSR Journal of Dental and Medical Sciences, 2016
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in a phenotypically normal woman with male karyotype (XY). We present a case of a 20 years old patient who had history of primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, absence of hair in the groins and axillary areas, short blind vagina, absent cervix and uterus. A firm mass measuring 5x3 cms was palpable in the left inguinal region. MRI pelvis revealed a cystic lesion measuring 6.8x5.5 cms on the right side. Histopathological examination revealed that both the masses were composed of testicular tissue with absence of ovarian component. The testes were removed to avoid the risk of malignancy. The patient was counseled and discharged with lifelong hormone replacement therapy.