Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.

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. Labor

SUBMITTER: Ozbas B 

PROVIDER: S-EPMC10249131 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature