Bilateral inguinal masses or hernias in a female teenager with delayed menarche: Think of Complete Androgen Insensitivity Syndrome (CAIS), a case report

Terro, Jad J.; El-Helou, Etienne; Jammoul, Kassem; Lakkis, Rayyan El; Shibli, Abbass; EL-Chamaa, Bilal; Al-Shami, Jaafar; Naccour, Jessica; Damaj, Nahed; Abtar, Houssam Khodor

doi:10.1016/j.ijscr.2020.09.115

Cited by 3 publications

(1 citation statement)

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“…Then, CAIS patients often have no obvious abnormal manifestations in the infant stage before gonadal initiation, and the diagnosis is quite difficult. If the vulvar phenotype is ambiguous, inguinal or labia majora nodules, scrotal emptiness or hypospadias are found, special attention should be paid to the possibility of this disease [8,9]. The following karyotype test will help to early diagnosis and treatment.…”

Section: Introductionmentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

Yang¹,

Chun-ke²,

Hai-qi³

2022

Obstet Gynecol Cases Rev

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Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disease caused by the absence or defects of androgen receptor (AR). Due to the insensitivity to androgen, clinically, patients often manifest as sexual development disorder. According to the grade of the remaining AR function, AIS is classified as complete (CAIS), partial (PAIS) or mild (MAIS). A 14-year-old Chinese child, raised 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; uterus and ovaries were absent. Karyotype confirmed a 47, XXY (12)/46, XY (88) mosaicism. She underwent gonadectomy and the postoperative pathology identified bilateral testicular tissue with atrophic seminiferous tubules and no signs of malignancy. She started on hormonal therapy after surgery. The clinical manifestations of CAIS are relatively insidious. Clinicians should master the characteristics of this disease, identify carefully, make a clear diagnosis, and then develop an individualized treatment plan, so as to improve the life quality of patients and reduce the occurrence of tumors as much as possible.

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Section: Introductionmentioning

confidence: 99%