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Patients with 17α-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD.

Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the cyp17a1 gene: short stature