Title:Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in
a Female Patient
Volume: 23
Issue: 5
Author(s): Burak Ozbas, Mikail Demir, Huseyin Dursun, Izem Sahin, Aysa Hacioglu, Zuleyha Karaca, Munis Dundar and Kursad Unluhizarci*
Affiliation:
- Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey
Keywords:
Congenital adrenal hyperplasia, 11-beta hydroxylase deficiency, 11-deoxycortysol, CYP11B1 gene, mineralocorticoid pressure levels.
Abstract:
Background: 11β hydroxylase deficiency (11βOHD) ranks as the second most common
enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme
deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased
mineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on
chromosome 8q24.3 have been shown to cause 11βOHD. Here, we report a novel missense mutation
that leads to 11βOHD in a female patient.
Case Presentation: A 35-year-old female patient was admitted to the Endocrinology Department with
a complaint of abdominal pain. The patient had a history of genital reconstruction surgery twice in
childhood. On physical examination, an abdominal mass was detected. Laboratory examination of the
patient revealed low levels of cortisol, potassium and high levels of ACTH, 11-deoxycortisol and
androstenedione, suggesting 11βOHD. Genotyping showed a novel homozygous missense mutation
(c.1385T>C L462P variant) detected on the 8th chromosome where the CYP11B1 gene is located.
Glucocorticoid therapy was commenced for the patient whose diagnosis of 11βOHD was confirmed by
both hormonal and genetic tests. A mass originating from the left adrenal gland with the largest diameter
of 7 cm was compatible with myelolipoma.
Conclusion: In this case report, we aimed to contribute to the literature by reporting a new missense
mutation in the CYP11B1 gene, leading to classic type 11βOHD that has not been described before.
