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

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.

A case of partial androgen insensitivity syndrome with undescended testis and clitoromegaly

“…2 Despite the presence of testes and normal testosterone levels in genetically XY males with these mutations, they do not undergo typical male virilization. 3 AIS is a range of disorders that vary in the degree of receptor insensitivity. There are three basic phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia, partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia and mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.…”

“…4 Whole-exome sequencing is a valuable tool for identifying Mendelian diseases such as CAIS. 3 Gonadectomy is recommended after puberty to reduce the risk of testicular tumours, and hormone replacement therapy is initiated after, or at the time of, expected puberty if gonadectomy was performed prepubertally. Patients with a female phenotype or raised as females can benefit from corrective surgery of the urogenital tract, vaginal dilator therapy, or vaginoplasty before active sexual life is contemplated.…”

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

“…In about 30% of the cases, mutations appear de novo in the patient. De novo mutations may originate from the mother either in a single germ cell or as a germ cell mosaicism and then, present as hemizygous germline mutations in the 46, XY offspring (Farah et al, 2021). Because the mother transmitted the mutation twice, germ cell mosaicism could be assumed, while the germ cells of the mother could not be profoundly studied.…”