A Rare Case of Partial Gonadal Dysgenesis (46,XY) from Pakistan
DOI:
https://doi.org/10.63501/pjd76z66Keywords:
46,XY Partial Gonadal Dysgenesis, Disorders of Sexual Development (DSD), Ambiguous Genitalia, Hypospadias, Hormonal EvaluationAbstract
46XY Partial gonadal dysgenesis(PGD) is a rare subset of disorders of sexual development (DSD).
Diagnosing and managing such cases can be particularly challenging in resource-limited settings
like Pakistan. We present the case of a 17-year-old male with ambiguous genitalia and
hypospadias. On presentation, he was diagnosed with perineal hypospadias, rudimentary blind
ending vagina, asymmetric testicular descent and a hypoplastic prostate. Hormonal tests
revealed high levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) and low
testosterone, and imaging studies showed a normal bladder shape but no prostate. Surgical
treatment was performed in two steps. Stage one consisted of scrotoplasty, urethroplasty,
chordea correction and grafting. The second operation involved tubular reconstruction of the
urethra. Along with that, we also gave hormone replacement therapy for testosterone
deficiency and sent the patient for psychological counselling. To our knowledge, no previously
published cases of PGD have been reported from Pakistan. Nevertheless, a complete gonadal
dysgenesis (Swyer Syndrome) case was described by Jawed et al in 2023. This case report
describes this patient’s unique presentation thereby exemplifying the wide spectrum of clinical
findings and management difficulties of this case while adding to the scant literature on DSD in
Pakistan, in hopes of providing insight to improve patient outcomes.
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