The Physiological, Psychological and Genetic Expressions of XY Female Reporting at Tertiary Care Infertility Clinic of Kingdom of Saudi Arabia

Abstract

Background: Disorder in sex development (DSD) refers to a variety of diagnoses in which the development of chromosomal make-up, gonadal development, or anatomical development is abnormal. The most prevalent XY, DSD diagnosis is Complete Androgen Insensitivity Syndrome (CAIS), in which an individual has XY chromosomes but is phenotypically feminine.

Objective: To analyze the clinical features, management along with findings of diagnostic procedures like Ultra sounds and genetic testing of XY female reporting at tertiary care infertility clinic of KSA.

Study type, settings & duration: This retrospective study of 6 months duration was conducted on the basis of a five year data i.e. (2013-2018) of the female presented with amenorrhea at A Tertiary Care Infertility Clinic of KSA.  

Methodology: Data of 110 female fulfilling the inclusion criteria was retrieved from institutional data base on a predesigned questionnaire. Data was collected regarding patient’s demographics characteristics, clinical presentation and management, along with findings of ultrasound and genetic testing.

Results: Total 110 patients of primary amenorrhea reported to the Reproductive Endocrinology and Infertility Medicine Department (REIMD) from 2013–2018. Among them 40 had uterine/cervical/vaginal abnormalities, 30 had Mayer-Rokitansky-Küster-Hauser(MRKH)/ Obstructed Hemi-vagina and Ipsilateral Renal Anomaly (OHIRA) syndrome, 35 had primary Premature Ovarian Insufficiency (POI) and 5 patients with Disorder of Sex Development (DSD) XY females were identified. Median age of patients was 18 years (interquartile range (IQR) 15-22) with a median BMI of 25.6 (IQR 20.5, 37.2). In three (60%) patients there was complete androgen insensitivity, while two (40%) had partial androgen insensitivity....