Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report (original) (raw)
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The Journal of Clinical Endocrinology & Metabolism, 2000
Androgen insensitivity syndrome (AIS) is the most common single entity that results in male under-masculinization, but large cohort studies of AIS have rarely been performed. Over the last decade, nationwide cooperation between pediatric endocrinologists in the United Kingdom has allowed the creation of a database of cases of intersex and ambiguous genitalia where detailed clinical information on every notified case has been collected via a questionnaire. Among the 816 entries recorded by January 1999, there were 105 clinically diagnosed cases of complete AIS (CAIS) and 173 cases of partial AIS (PAIS). A masculinization score was devised by scoring the external phenotype, and a score of 12 represented normal masculinization. Androgen receptor (AR) binding was determined by studying binding capacity (B max) and receptor affinity (K d), and cases were classified as either zero, abnormal, or normal binding. Mutation screening of all eight exons of the AR gene was performed by single-strand conformational polymorphism analysis, followed by direct DNA sequencing. 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). The testes were palpable in the labioscrotal folds or the inguinal region in 77% and 41% of cases of CAIS and PAIS, respectively. There was marked overlap between the masculinization score of those children with PAIS reared as girls [2.5(P10,P90:1, 6)] and those reared as boys [3(P10,P90:2, 7.5)]. Gonadectomy was performed prepubertally in 66% and postpubertally in 29% of the cases of CAIS.
The Ceylon medical journal, 2015
There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition affecting their baby. This is the first report from Sri Lanka documenting the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. To describe the socio-demographic and clinical features and document the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. 46, XY patients with ambiguous genitalia followed up in the University Unit at the Lady Ridgeway Hospital, Colombo, and clinically identified as having androgen insensitivity syndrome (AIS) or a testosterone biosynthetic defect were recruited for the study. Their socio-demographic details and clinical features were documented. Exons 1 to 8 of the AR gene were scree...
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.
Androgen Insensitivity Syndrome-A Case Report
Androgen insensitivity syndrome is a disorder where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures. It occurs due to an X-linked mutation in Androgen Receptor gene. This disorder includes a spectrum of changes ranging from male infertility to completely normal female external genitalia in a chromosomally male individual. These cases need proper diagnosis and appropriate management. We report this case for its interesting presentation. The patient is a 20 year old female, presented with bilateral labial swellings and primary amenorrhoea. Subsequent investigations were done which revealed that the patient is a genetically male with absence of female internal genitalia but presence of testes. Gonadectomy was done after proper counseling and was put on hormone replacement therapy. Proper psychological support was also given to her, which is more important.