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All Journal Green Medical Journal
Astri Amelia Gosal
Spesialist Medical Education Program, Faculty of Medicine, Universitas Hasanuddin
Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Public Health

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Keterlambatan Diagnosis Sindrom Turner – Penyakit Genetik Langka : Laporan Kasus Astri Amelia Gosal; Ratna Dewi Artati
Green Medical Journal Vol 4 No 2 (2022): Green Medical Journal
Publisher : Fakultas Kedokteran Universitas Muslim Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33096/gmj.v4i2.101

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.
Co-Authors Ratna Dewi Artati