Open AccessCYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA
Author(s) -
Sara Ali Zaidi,
Asad Mahmood,
Rafia Mahmood,
Aamna Latif,
Helen Mary Robert,
Sarah Fatimah
Publication year - 2021
Publication title -
pakistan armed forces medical journal
Language(s) - English
Resource type - Journals
eISSN - 2411-8842
pISSN - 0030-9648
DOI - 10.51253/pafmj.v71i6.5007
Subject(s) - medicine , karyotype , congenital adrenal hyperplasia , ambiguous genitalia , external genitalia , turner syndrome , disorders of sex development , chromosomal analysis , gynecology , pediatrics , obstetrics , chromosome , anatomy , biology , genetics , gene
Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup.
Study Design: Cross-sectional study.
Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Aug 2018 to Feb 2019.
Methodology: All the patients with ambiguous genitalia referred for cytogenetic analysis, were included in the study. The patients were subjected to a detailed history and physical examination. The record of radiological investigations was were obtained. Cytogenetic analysis was performed using the conventional G-banding technique. Hormonal testing included 17- hydroxyprogesterone (17-OHP) levels was also performed.
Results: Fifty-one cases of ambiguous genitalia were studied. The median age was 15 months. Thirty-three patients (64.7%) had a 46XY karyotype, 17 (33.3%) had a 46XX karyotype while 1 (1.9%) had 45X/46, XY mosaic karyotype. Thirty patients (58.8%) were products of consanguineous marriage. Congenital adrenal hyperplasia was diagnosed in 12 cases (70.5%) of 46 XX karyotype and in 3 cases (9%) of 46XY karyotype.
Conclusion: Ambiguous genitalia, currently categorized as disorders of sex development, are not uncommon in our populartion. Increased awareness and early diagnosis are crucial to prevent life threatening complications of congenital adrenal hyperplasia, to determine sex of rearing, and to counsel the parents or patients.