Male pseudohermaphroditism due to deficiency of steroid 5 alpha-reductase enzyme

A 17-year-old Saudi Arabian patient with male pseudohermaphroditism, testes and a 46 XY karyotype is described. Derivatives of the Wolffian duct were well differentiated but he had penoscrotal hypospadias. The diagnosis of 5 alpha-reductase deficiency was confirmed by the finding of normal plasma testosterone, low dihydrotestosterone, and elevation of the ratio of urinary C19 and C21, 5 beta/alpha-metabolites

Evolution of polyglandular autoimmune syndrome type I in a Saudi Arabian family

The clinical and laboratory findings are described in three male Saudi Arabia siblings, aged 28, 18, and 9 years and products of consanguineous marriage. In all three patients, serum calcium and parathyroid hormone were low, while serum phosphate was high. Patients 1 and 2 had low serum thyroxine, low serum cortisol, and elevated serum thyroid-stimulating hormone [TSH]. Patients 3 had normal serum thyroxine, cortisol, and TSH. Patients 1 had a high corticotrophin level and antibodies against pancreatic islet cells, and patients 1 and 2 both had significant titers of antibodies to thyroglobulin and microsomes. The findings described in this family are consistent with polyglandular autoimmune syndrome type I, in which patients 1 and 2 had primary hypoparathyroidism, hypothyroidism, and hypoadrenalism, developing in that order. So far, patients 3 has had only hypoparathyroidism