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Coping up with an abnormal chromosome: the role of the gynecologist in the management of complete androgen insensitivity syndrome.

Author

Florely Joy E. Gregorio,
Anna Belen I. Alensuela

Related Institution

Section of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology - Consortium of FEU-NRMF Medical Center and Jose R. Reyes Memorial Medical Center - Far Eastern University

Publication Information

Publication Type
Journal
Publication Sub Type
Case report
Title
Philippine Journal of Reproductive Endocrinology and Infertility
Frequency
Semi-Annual
Publication Date
July-December 2015
Volume
12
Issue
2
Page(s)
73-89

Abstract

Androgen insensitivity syndrome is a rare X-linked recessive androgen receptor defect seen in 1-5 of 100,000. It occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and a sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and the gonads may be intra-abdominal, inguinal, or labial. This is a case of a 25-year old phenotypic female with primary amenorrhea, bilateral inguinal masses and a 46, XY karyotype. Following the diagnosis of complete androgen insensitivity syndrome, a multidisciplinary team, with the gynecologist as the primary physician, was formed. She underwent bilateral gonadectomy and was given continuous estrogen therapy and calcium supplementation. Pre-operative and post-operative supportive psychotherapy and continuous psychosocial support from her family and online AIS support groups played a major role in the positive adaptation of the patient.

References

1. Lipana MR, , Tanangonan GG, . "Beyond the Xs and Ys: A case of complete androgen insensitivity syndrome" Philippine Journal of Reproductive Endocrinology and Infertility 6, 1-9, 2009
2. Warne GL, , Raza J, . Reviews in Endocrine and Metabolic Disorders 9, 227-236, 2008. Retrieved from: http://DOI 10.1007/s11154-008-09084-2

Physical Location

LocationLocation CodeAvailable FormatAvailability
Philippine Society of Reproductive Medicine 02 9209565 Abstract (Download)

 
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