Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature
Background. 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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2020-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/523 |