scholarly journals Complete Androgen Insensitivity Syndrome and Literature Review

2019 ◽  
Vol 29 (2) ◽  
pp. 187-191
Author(s):  
Mauricio Giusti Calderon ◽  
Carolina Maria Barbosa Lemos ◽  
Mariana Drigo Alem ◽  
Thais Cristina Pinelli ◽  
Rodrigo Daminello Raimundo
Keyword(s):  
Inguinal Hernia ◽  
Literature Review ◽  
Genetic Disorder ◽  
Androgen Insensitivity Syndrome ◽  
Diagnostic Methods ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Preoperative Diagnostic ◽  
Genetic Techniques

Backgroung: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as “testicular feminization”. It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. The main clinical presentation in childhood is the presence of bilateral inguinal hernia in phenotypically female subjects. Incidence of androgen  insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. Case Summary: We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. Conclusion: Investigation of CAIS should be standard in prepubertal girls with bilateral inguinal hernia, genetic techniques involving X chromatin or Y chromosome tests present the best choices.

scholarly journals Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Stephanie Farah ◽  
Dana El Masri ◽  
Kamal Hirbli
Keyword(s):  
Inguinal Hernia ◽  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Abstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome. Case presentation A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy. Conclusion Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.

scholarly journals XY female with complete androgen insensitivity syndrome with bilateral inguinal hernia

2021 ◽  
Vol 8 (4) ◽  
pp. 1353
Author(s):  
Aafrin Shabbir Baldiwala ◽  
Vipul C. Lad
Keyword(s):  
Inguinal Hernia ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Normal Female ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Primary Amenorrhoea ◽  
The Individual

The complete androgen insensitivity syndrome (AIS), previously called testicular feminization syndrome, is an X-linked recessive rare disorder. AIS is the most common male pseudohermaphrodite. Patient has 46, XY chromosome and testis. The individual is phenotypically female and genotypically male. Antimullerian hormone is produced by the testis. So, uterus and fallopian tubes do not develop in fetus. The fault lies with androgen receptors which are mutated. Male differentiation of external genitals does not occur. The individuals are reared as girls and the condition is suspected when the individual is evaluated for primary amenorrhea, infertility or when unilateral/bilateral inguinal hernia is diagnosed in girls. 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 23 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. Proper psychological support was also given to her, which is more important.

scholarly journals Unexpected Diagnosis of Complete Androgen Insensitivity Syndrome (CAIS) During Inguinal Hernia Repair in 11-year-old-girl

2021 ◽  
pp. 70-75
Author(s):  
Rayan Khalid ◽  
Alaa M. Siddig ◽  
Abdelrahman A. Abudoam ◽  
Abdel Bagi Alzain ◽  
Imad Fadl-Elmula
Keyword(s):  
Inguinal Hernia ◽  
Hernia Repair ◽  
Inguinal Hernia Repair ◽  
External Genitalia ◽  
Genetic Mutation ◽  
Androgen Insensitivity Syndrome ◽  
Normal Female ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete Androgen Insensitivity Syndrome (CAIS) is an X-link recessive genetic mutation of androgen receptor (AR) gene leading to complete inability of cell to respond to the androgens. CAIS occurs in 1 out of 20,400 XY live-birth babies, and affects about 1–2% of prepubertal girls that present with an inguinal hernia. Although individuals with CAIS have XY, those with grades 6 and 7 on the Quigley scale are born phenotypically female, without any signs of genital masculinization. Thus, individuals affected by CAIS develop a normal external female phenotype with normal female external genitalia, well-developed breast, absent uterus, and bilateral undescended testicles. The question of CAIS diagnosis does not come forward until the absent menses at the puberty is noted or accidentally during an inguinal hernia repair in a premenarchal girl. The present study reports a case of inguinal hernia repair on 11-year-old girl, which led to unexpected intraoperative notion of CAIS. The diagnostic work-up, genetic counseling, sex assignment, and the need for preoperative CAIS screening in girls with bilateral inguinal hernia are described and discussed. Keywords: DSD, CAIS, bilateral inguinal hernia, gonadectomy

scholarly journals Androgen Insensitivity Syndrome (AIS): A Case History

2015 ◽  
Vol 4 (1) ◽  
pp. 33-37
Author(s):  
Hazera Khatun ◽  
Tarannum Rahman
Keyword(s):  
Inguinal Hernia ◽  
Sex Chromosome ◽  
Pubic Hair ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Bilateral Inguinal Hernia ◽  
School Girl ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Medical College

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

scholarly journals Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

2019 ◽  
Vol 16 (7) ◽  
pp. 1268 ◽  
Author(s):  
Lucia Lanciotti ◽  
Marta Cofini ◽  
Alberto Leonardi ◽  
Mirko Bertozzi ◽  
Laura Penta ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Androgen Insensitivity Syndrome ◽  
Childhood And Adolescence ◽  
Testicular Germ Cell Tumour ◽  
Unique Challenge ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Prognostic Features ◽  
Clinical Presentations ◽  
Increased Risk

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder.

Sign in / Sign up

Export Citation Format

Share Document