Ambiguous genitalia, ambiguous future: A case report of Partial Androgen Insensitivity Syndrome
Publish place: 3rd national congress on clinical case reports
Publish Year: 1398
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
CCRMED03_308
تاریخ نمایه سازی: 20 بهمن 1398
Abstract:
Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disease, which can lead to 46,XY disorders of sex development (DSDs) and variable degrees of under-virilization. The only known cause of PAIS is androgen receptor (AR) nonresponsiveness to androgen, which is due to mutation of AR gene or coregulators of it. PAIS can have a wide range of phenotype from normal female external genitalia (occasionally) to ambiguous male genitalia with severe perineoscrotal hypospadias, cryptorchidism, bifid scrotum, micropenis, under masculinization and gynecomastia. In addition, there will be partial loss of secondary sexual characteristics such as facial hair reduction, testicular atrophy, decreased libido, erectile dysfunction and infertility.
Keywords:
PAIS , Partial androgen insensitivity syndrome , gonadectomy , XY disorders of sex development , androgen receptor
Authors
Shahab Nourian
MD: Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran
Ehsan Zahmatkesh,
MD: Department of Pediatrics, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran
Peyman Saeidi,
Medical Student: Student Research Committee, Alborz University of Medical Sciences and Health Services, Karaj, Iran