@article{Llanes_Uyking-Naranjo_2019, title={Isochromosome Mosaic Turner Syndrome: A Case Report}, volume={34}, url={https://asean-endocrinejournal.org/index.php/JAFES/article/view/613}, DOI={10.15605/jafes.034.02.15}, abstractNote={<p style="text-align: justify;">Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i(X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.</p> <p style="text-align: justify;">A 20-year-old female came in due to amenorrhea and alopecia. Physical examination revealed short stature, cubitus valgus and Tanner Stage 1 pubic hair and breast development. Transrectal ultrasound revealed absent ovaries and infantile uterus. Hormonal evaluation revealed hypergonadotropic hypogonadism. Bone aging was that of a 13-yearold for females with non-fusion of epiphyseal plates. Cytogenetic study revealed 45,X [37]/46, X, i (X) (q10)[13]. This is consistent with a variant Isochromosome Mosaic Turner Syndrome (IMTS).</p> <p style="text-align: justify;">She was screened for medical complications. Audiogram and two-dimensional echocardiography were unremarkable. She has dyslipidemia and was given a statin. She has subclinical hypothyroidism with positive test for anti-thyroglobulin antibody. Her intelligence quotient (IQ) was below average. She received conjugated estrogen and progesterone that patterned the hormonal changes in a normal menstrual cycle. On the third week of hormonal therapy, she developed breast mound and on the fourth week, she had her first menstrual period. Her alopecia spontaneously resolved.</p> <p style="text-align: justify;">The case is a variant of Turner Syndrome requiring supportive, medical and psychological care.</p>}, number={2}, journal={Journal of the ASEAN Federation of Endocrine Societies}, author={Llanes, Mark Ramon Victor and Uyking-Naranjo, May}, year={2019}, month={Nov.}, pages={220–225} }