Bella Amanda
Andrology Specialist Program, Department Of Medical Biology, Faculty Of Medicine, Universitas Airlangga – Dr. Soetomo Hospital, Surabaya, Indonesia

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Case Report : A Woman 27 Year Old with Mosaic Turner Syndrome Associate Hypogonadotropic Hypogonadism Cennikon Pakpahan; Bella Amanda; Berliana Hamidah; Rina Yudiwati
Indonesian Andrology and Biomedical Journal Vol. 1 No. 2 (2020): December
Publisher : Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (494.891 KB) | DOI: 10.20473/iabj.v1i2.32

Abstract

Background: Turner syndrome is a chromosomal abnormality found in phenotypically women who have one intact X chromosome and the absence of second sex chromosomes. Case: The patient is a 27-year-old Javanese girl. At the age of 14 years, she came to the gynecology clinic with chief complaints of amenorrhea and then given cycloprogynova by the physcian, the complaint improved but menstruation did not appear in the following month did not return to the gynecologist for evaluation. At the age of 26, she returned to the gynecologist and then was given medicine to stimulate menstruation and was referred to an internist-endocrinologist because of a suspected hypothyroid. Then a few months later the patient returned to the gynecologist and then examined hormones, ultrasound, and karyotyping for evaluation as well as establishing the diagnosis. FT4 hormone examination results 0.87 ng / dl, TSHs 0.708 Uiu / mL, T3 (Total) 0.49 ng / mL, FSH 2.38 Miu / mL, LH 1.3 Miu / mL, prolactin 14.7 ng / ml, progesterone <0.10 ng / ml, estradiol <5 ng / ml indicates hypogonadotropic hypogonadism with hypothyroidism. Ultrasound results showed hypoplasia with uterine axis measuring 2.27 x 2.09 cm. Karyotyping result with 45x / 46xx indicate mosaic turner syndrome. Patients were given progestin, esthero and also thyrax for hormone replacement therapy. Discussion: Turner syndrome with hypogonadotropic hypgonadism is a rare variation of the turner syndrome. The definite cause is still uncertain. Some cases are usually accompanied by other hormone disorders such as thyroid and growth hormone. Conclusion: A 27-year-old woman with hypgonadotrophic hypgonadism associated with mosaic turner syndrome. The diagnosis is done by history taking, hormone examination, imaging, and karyotyping. treatment given progestin, estrogen, and thyrax.
WORKSHOP ON EARLY DETECTION OF CONGENITAL DISORDERS FOR KNOWLEDGE UPDATE AND IMPROVEMENT OF PRIMARY HEALTH CARE PERSONNEL IN PROBOLINGGO CITY Bella Amanda; Rimbun; Zakiyatul Faizah; Tri Hartini Yuliawati; Puguh Setyo Nugroho; Yuni Hisbiyah
Jurnal Layanan Masyarakat Vol. 7 No. 2 (2023): JURNAL LAYANAN MASYARAKAT
Publisher : Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/jlm.v7i2.2023.173-179

Abstract

Congenital disorders are a group of rare diseases and one of the health problems that are often overlooked. Congenital disorder needs to get more attention because it can affect the quality of life of the patient and the affected family. Because of its impact on the patient's quality of life in the future, early detection is needed to be able to provide early intervention and minimize long-term effects. Doctors who work in primary health facilities have an important role in early detection of congenital abnormalities in the community. They are one of the first health workers visited by the community when they have questions and complaints about certain diseases. Improvement and update of knowledge for health workers is very important as an effort to reduce mortality and morbidity caused by congenital abnormalities. This community service is carried out by holding training activities for early detection of congenital abnormalities aimed at doctors who work in primary health care facilities. Increased knowledge of community service participants showed significant results (p <0.0001), which is expected to play an active role in early detection of congenital abnormalities in the people of Probolinggo City in the future.