46 XY DISORDER

ETIOLOGICAL CLASSIFICATION OF THE PATIENT WITH SEX DEVELOPMENT

Abstract

Objectives: The Disorders of Sex Development are classified as 46, XY DSD,
46, XX DSD and Chromosomal DSD according to the chromosomal constitution of the affected
persons. 46, XY DSD is further classified into Androgen Synthetic Defect, Androgen Insensitivity
Syndrome Gonadal Dysgenesis, 5-Alpha Reductase Deficiency, Persistent Mullerian Duct
Syndrome and Isolated Hypospadias according to the pathophysiology of the disease. The
aim of present study was to classify 46, XY patients into their subclasses on the basis of their
hormonal profile and physical examination. Study Design: Observational descriptive study.
Setting: Biochemistry Department University of Health Sciences for Karyotyping and Genetic
assessment, and its allied institution Biochemistry Department Quaid-e-Azam Medical College
Bahawalpur for hormonal analysis, along with Pediatric Medicine Departments of Quaid-e-Azam
Medical College / Bahawal Victoria Hospital Bahawalpur for collection of Sample and clinical
assessments. Period: June 2015 to December 2015. Study Design: Observational descriptive
study. Material and Methods: 53 patients with 46, XY DSD were recruited. Complete clinical
history and data of each patient was recorded in the research proforma. Genitals examined
for the phallus length and size, position of urinary meatus, palpation of gonads and shape of
the labioscrotal folds. Ultrasonography examination of each patient was performed to look for
undescended testes and for the presence of either male or female internal reproductive organs.
Results: Base line levels of serum Testosterone Dihydrotestosterone Luteinizing hormone,
Follicle stimulating hormone, 17-OH-Progesteron and Anti-mullerian hormones were measured
by ELISA technique. Testosterone and DHT were measured again after hCG stimulation. On
the basis of physical examination, ultrasonographic findings and hormonal profile diagnosis
of the types of 46, XY DSD was possible in 27 (51%) of patients. Androgen synthesis defect as
a cause of 46, XY DSD was diagnosed in 7(13%) patients, Androgen insensitivity syndrome in
6(11%) patients, 5-Alpha reductase deficiency in 3(6%) patients, Gonadal Dysgenesis in 3 (6%),
Persistent Mullerian Duct Syndrome in 3(6%) and Isolated Hypospadias in 2 (4%) patients.
There were 26 (49%) patients which remain undiagnosed with the algorithm of diagnosis used
in the present study.