Published online Apr 6, 2021. doi: 10.12998/wjcc.v9.i10.2259
Peer-review started: August 29, 2020
First decision: December 28, 2020
Revised: January 10, 2021
Accepted: January 27, 2021
Article in press: January 27, 2021
Published online: April 6, 2021
Co-morbidity of SRY gene turner syndrome (TS) with positive SRY gene and non-classical congenital adrenal hyperplasia (NCAH) is extremely rare and has never been reported to date.
In this article, we present a 14-year-old girl who was referred to our hospital with short stature (weight of 43 kg and height of 143 cm, < -2 SD) with no secondary sexual characteristics (labia minora dysplasia). Laboratory tests indicated hypergonadotropic hypogonadism with significantly increased androstenedione and 17-hydroxyprogesterone (17-OHP) levels. This was accompanied by the thickening of the extremity of the left adrenal medial limb. The patient’s karyotype was 45,X/46,X, +mar, and cytogenetic analysis using multiplex ligation-dependent probe amplification and high-throughput sequencing indicated that the SRY gene was positive with compound heterozygous mutations in CYP21A2 as the causative gene for congenital adrenal hyperplasia. The sites of the suspected candidate mutations were amplified and verified using Sanger sequencing. The patient was finally diagnosed as having SRY positive TS with NCAH. The patient and her family initially refused medical treatment. At her most recent follow-up visit (age = 15 years old), the patient presented facial hair, height increase to 148 cm, and weight of 52 kg, while androstenedione and 17-OHP levels remained high. The patient was finally willing to take small doses of hydrocortisone (10 mg/d).
In conclusion, upon evaluation of the patient mentioned in the report, we feel that 17-OHP measurement and cytogenetic analysis are necessary for TS patients even in the absence of significant virilization signs. This will play a significant role in guiding diagnosis and treatment.
Core Tip: This paper reports a 14-year-old girl who was diagnosed with non-classical congenital adrenal hyperplasia (NCAH) and turner syndrome (TS) with a positive SRY gene concurrently. The combination of these three factors increases the difficulty of diagnosis and treatment but provides insights into the understanding of TS. At the same time, in the diagnosis of TS, in addition to karyotype analysis, physical examination of virilization characteristics, 17-hydroxyprogesterone detection, and even cytogenetic analysis are of vital importance, which are helpful for clinicians to identify the diagnosis and treatment of the disease and avoid missed diagnosis and misdiagnosis. This report expands clinicians' understanding of TS and NCAH.