Variant Turner Syndrome With 46, X, i(Xq) Karyotype: A Case Report

• Main Authors: Mahmut Balkan, Nail Alp, Ahmet Yalınkaya, Hilmi İsi, Turgay Budak
• Format: Article
• Language: English
• Published: Dicle University Medical School 2005-01-01
• Series: Dicle Medical Journal
• Subjects: Turner Syndrome; Isochromosome Xq.
• Online Access: http://4181.indexcopernicus.com/fulltxt.php?ICID=888055

Case was 14 years-old girl having complaints of growth retardations and primary amenorrhea. In the physical and gynecological examinations; her height and weight were 130 cm and 45 kg, respectively and secondary sex characteristics were infantile and hymen annular was intact and the depth of vagina was 7 cm and, palpitate of pelvis was empty. The case did not show broad chest, neck webbing and low posterior hairline. Uterus dimensions were 11x7x4 mm and ovaries were not seen in ultrasonographyic examination. Karyotypes in the peripheral blood cells were variant Turner Syndrome with isochromosome Xq constitution; 46,X, i(Xq), so made detailed laboratory analysis. She had high plasma gonadotropin and low estradiol and progesterone and slightly high plasma TSH and slightly low free T3 and T4 hormone levels. Ultrasonography showed that thyroid was diffuse. Insulin and growth hormone levels were normal. The bone age was 10-11 year and compatible with her age. IQ test in the patient was found the normal. In the variant turner syndrome, clinic table was slighter than Classic Turner Syndrome as in our case.