A case of mixed gonadal dysgensis: A diagnostic challenge

• Published in: Journal of human reproductive sciences Vol. 12; no. 2; pp. 169 - 172
• Main Authors: Saikia, Uma, Sarma, Dipti, Das, Darvin, Goswami, J, Saikia, Chandan, Nair, Abilash
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01.04.2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer - Medknow; Wolters Kluwer Medknow Publications
• Subjects: 45X/47 XYY; 46, XY disorders of sex development; Androstenedione; Aneuploidy; Biopsy; Blood pressure; Body height; Care and treatment; Case Report; Case studies; Cervix; Chorionic gonadotropin; Chromosomes; Cytogenetics; Diagnosis; Dihydrotestosterone; disorders of sexual differentiation; Failure to thrive; Fluorescence in situ hybridization; Follicle-stimulating hormone; Genetic disorders; Genitalia; Genotypes; Glucocorticoids; Gonadectomy; Gonads; Histopathology; Hormone replacement therapy; Hormones; Laparoscopy; mixed gonadal dysgenesis; Patients; Pediatrics; Pituitary (anterior); Pituitary hormones; Progesterone; Puberty; Sex hormones; Steroids (Organic compounds); Surveillance; Testosterone; Thyroid; Tubules; Ultrasonic imaging; Ultrasound; Urinary bladder; Uterus; Vagina; 45X/47 XYY; mixed gonadal dysgenesis; disorders of sexual differentiation

A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth. There was no history of failure to thrive or salt-losing crisis. On examination, the child had normal height and weight with normal blood pressure and no dysmorphism or Turners stigmata wit...