Green Medical Journal
Vol 4 No 2 (2022): Green Medical Journal

Keterlambatan Diagnosis Sindrom Turner – Penyakit Genetik Langka : Laporan Kasus

Astri Amelia Gosal (Spesialist Medical Education Program, Faculty of Medicine, Universitas Hasanuddin)
Ratna Dewi Artati (Department of Pediatrics, Faculty of Medicine Hasanuddin University)



Article Info

Publish Date
31 Aug 2022

Abstract

Turner syndrome (TS) is a rare genetic disease that occurs only in girls and is the result of the complete or partial absence of the X chromosome. TS has often delayed diagnosis in late childhood or adolescent age and is rarely identified during the neonatal period. The clinical features are primary amenorrhea, short stature, infertility, and characteristic dysmorphic features. Late diagnosis is the main problem because early detection and appropriate management can improve the final height, sexual health and psychological development of patients. We report a case of turner syndrome in a 16-years and 4-months old female adolescent. The patient had specific clinical features of turner syndrome such as amenorrhea, absence of secondary sex growth and posture short stature since 14 years old. This case was confirmed from anamnesis, physical examination and chromosomal analysis, which demonstrated a gene karyotype of 45, X monosomy.

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Journal Info

Abbrev

gmj

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Public Health

Description

Green Medical Journal (GMJ) is a peer-reviewed, open-access journal that publishes original research articles, review articles, and interesting case reports. The journal focuses on promoting medical and health sciences, derived from basic sciences, clinical and community health research, both in ...