TURNER SYNDROME: DIAGNOSIS AND TREATMENT CHALLENGE IN A DEVELOPING COUNTRY.

Siska Mayasari LUBIS, Melda DELIANA, Clara DEVINA.

Child Health Department, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia.

ABSTRACT

Turner syndrome is one of the rare genetic diseases when there is a partial or complete missing of the X chromosome in females. Short stature and late puberty are the most common manifestations and the main target of treatment. However, not all Turner syndrome patients can get both treatments. We herein report the challenges in treating Turner syndrome patients in a developing country with a chief complaint of short stature and whose breasts had not grown. The patient was diagnosed late because the parents thought her short stature was normal. The patient denied growth hormone therapy because the treatment was expensive and the government’s insurance program did not cover it. Therefore, we optimized her treatment in another aspect, which was inducing her puberty with low-dose estrogen. In developing countries, late diagnosis, expensive treatment, and no insurance coverage are challenges in treating patients with rare diseases such as Turner syndrome.

Keyword: Chromosomes, Diagnosis, Developing countries, Treatment, Turner syndrome.

Corresponding author: Siska Mayasari Lubis, Child Health Department, Faculty of Medicine, Universitas Sumatera Utara, Jl. Dr. Mansur No.5, Kampus USU, Medan, Sumatera Utara, 20155, Indonesia.

Email: siska@usu.ac.id ; Phone number: +62812-6542-859

Brunei Int Med J.2023;19:44-48