Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.
Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Median for age). Further examination detected several stigmas and 45,XO/46,XX mosaic karyotype. The patient received life style intervention and metformin treatment. She had an advanced bone age, spontaneous puberty and early menarche at the age of 9 years 9 months. with regular periods. Her final height is 142.5 cm, she has stopped growing when she was 11 years, never treated with GH, thyroid or sex hormones.
Case 2: The patient first come to our center at the age of 8.5 years for the short stature. The investigation revealed several stigmas, primary hypothyroidism, bicuspid aortic valve, kidney abnormality and 45,XO/46XX karyotype. She received GH and L-T4 therapy with final height 152 cm by the age of 15 y. Under such treatment, nodular thyroid lesions were observed with benign thyroid cytology at FNAB. The patient had never sex hormone replacement, her menarche was spontaneous at 13 years 8 months, the cycle was regular for 3 years. One year after GH withdrawn, a tumor 16×10×13 cm in size was found at pelvic US and CT and surgically removed. Cytology described the serous papillary cystic adenoma of the left ovary. She is currently under follow-up by endocrinologist, gynecologist and oncologist.
Case 3: The girl was examined for poor growth at the age 5 years 9 months. with the karyotype 46,Xdel(x)(p21). The girls mother (146 cm), maternal grand-mother (144 cm) and her sister have similar karyotype with preserved fertility and had never received any hormonal replacement.During the insulin GH stimulation test performance the girl demonstrated poor response and hypoglycemia, pituitary MRI was normal. She has no thyroid, cardiac and kidney abnormalities. The parents agreed with GH treatment when the patient was 9 years. In two years she gained 17 cm and entered puberty spontaneously at 9.5 years. Her metabolic paremeters are within normal range.
Our observations demonstrate a differences in mosaic TS clinical presentation and stress the need of a careful multi-disciplinary follow-up for such girls with a concern for their future.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology