Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.

ABSTRACT:

Background

We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork.

Case presentation

A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gona

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC8165845 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature