Indonesian Journal of Obstetrics and Gynecology (Majalah Obstetri dan Ginekologi Indonesia)
Volume 12 No. 1 January 2024

Mosaic Form of Turner Syndrome

Laqif, Abdurahman (Unknown)
Wijayanti, Agung Sari (Unknown)
Moelyo, Annang Giri (Unknown)
Budihastuti, Uki Retno (Unknown)
Melinawati, Eriana (Unknown)



Article Info

Publish Date
26 Jan 2024

Abstract

Objective: To report a case of breast growth disorder in a mosaic form of Turner Syndrome. Turner syndrome is a chromosomal condition characterized by small height and primary ovarian insufficiency that affects one in every 2500 female births. Mosaicism is likely to occur when monosomy X develops in only a few cells during development. The clinical presentation of Turner syndrome mosaicism is atypical, with symptom severity varying based on the number of affected cells. This case discusses issues with secondary sex development, including mild hyperandrogenism, and explores how combination hormonal treatment can aid in enhancing secondary sex development. Method: Case Report. Case: A 21-year-old woman presented with chief complaint of the lack of breast enlargement. She exhibited normal genitalia internally and externally and had a regular menstrual cycle. Karyotyping revealed a mosaic pattern of 45, X/46, XX (1 percent/99%) with normal estradiol levels and elevated testosterone levels (indicating mild hyperandrogenism). The patient underwent two cycles of hormone therapy using Ethinyl Estradiol and Drospirenone, resulting in breast growth progression from Tanner stage 1 to Tanner stage 2. Conclusion: Mosaicism in Turner syndrome is plausible, and the severity of clinical symptoms correlates with the number of defective chromosomes. The presentation of Turner syndrome mosaicism varies, and therapy should be tailored to address specific symptoms. While breast development is observed in some girls with Turner Syndrome, instances of breast growth disorder may occur, involving estrogen activity and estrogen receptor sensitivity. Although the exact cause of impaired breast growth remains unknown, administering estrogen in such cases can improve secondary sexual characteristics. Keywords: mild hyperandrogenism, mosaicism, turner syndrome

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Journal Info

Abbrev

journal

Publisher

Subject

Health Professions Medicine & Pharmacology Public Health

Description

The Indonesian Journal of Obstetrics and Gynecology is an official publication of the Indonesian Society of Obstetrics and Gynekology. INAJOG is published ...