These findings suggest that the hypogonadism in this patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis.
Neither testicular tissue nor any testosterone response to human chorionic gonadotropin stimulation test was observed. He had undetectable testosterone levels and elevated gonadotropins. The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined.
We report a case of the fourth child of healthy consanguineous parents who was presented to the hospital because of non-febrile seizures at 2 months of life.
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