XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia

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.

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XY female with complete androgen insensitivity syndrome with bilateral inguinal hernia

International Surgery Journal ◽

10.18203/2349-2902.isj20211325 ◽

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.

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Complete Androgen Insensitivity Syndrome and Literature Review

Journal of Human Growth and Development ◽

10.7322/jhgd.v29.9418 ◽

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.

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

Sudan Journal of Medical Sciences ◽

10.18502/sjms.v16i1.8938 ◽

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

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Androgen Insensitivity Syndrome (AIS): A Case History

Ibrahim Cardiac Medical Journal ◽

10.3329/icmj.v4i1.52875 ◽

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

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