ESPE Abstracts

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect children’s growth and development through different endocrine hormone metabolic dysfunction.

Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weight was 5.34 kg (+0.2 SD). A genital examination showed a 1.5 cm phallus, normal external urethral orifice, and incomplete fusion of the labia. Laboratory investigations showed normal blood electrolyte levels, hyperandrogen, decreased cortisol levels, and increased adrenocorticotropic hormone and 17-OHP levels. Deficiency of 21-hydroxylase was confirmed with the diagnosis of CAH owing to mutation of the CYP21A2 (cytochrome P450-family 21-subfamily A-polypeptide 2) gene. She was also diagnosed with TS because her karyotype showed a 45X/46XX pattern. Additionally, Sanger sequencing of SRY (sex-determining region Y) gene showed a negative result. After diagnosing the patient received hydrocortisone replacement therapy and was followed-up every three months. Our recent follow-up showed that the level of adrenocorticotropic hormone level returned to normal normal and her clitoris length had not increased and even appeared to have declined. Her length was 81 cm (+2.17 SD) and weight was 10.75 kg (+1.22 SD) when she was 1 year old.

Conclusion: CAH patients always have advanced bone age and TS patients in childhood and adolescence have low growth rate of height, both of these two diseases will lead to short stature. Furthermore, CAH patients with hyperandrogenia and TS patients with ovarian dysfunction both will lead to female infertility. Therefore, long-term regular follow-up and multidisciplinary combination therapy are particularly important in the treatment process. Additionally, in clinical diagnosis, if a known genetic disease cannot explain all of the clinical manifestations, the possibility that another genetic disease exists simultaneously should be considered.

Key Words: Turner syndrome, congenital adrenal hyperplasia, CYP21A2