Introduction: Hypothyroidism without treatment usually leads to delayed puberty in pediatric patients, sometimes it may rarely lead Van Wyk Grumbach syndrome (VWGS) which is characterized by isosexual precocious puberty. Exact mechanism of VWSG is unknown. High thyroid stimulating hormone (TSH) levels may directly effect on follicular stimulating hormone (FSH) receptors and lead precocious puberty. Interestingly simple thyroid hormone replacement therapy resolves symptoms in this syndrome.
Case report: Here we reported 9-year-6-month-old female patient with Down syndrome presented with recurrent vaginal bleeding and 7-year-6-month-old female patient with cerebral palsy presented with breast development. Although both patients were presented with precocious puberty symptoms, their height and bone age were behind their chronological age. Their free T4 levels were extremely low and TSH levels were high. Thyroid heterogeneity in the ultrasound and thyroid antibody positivit confirmed autoimmune thyroiditis. Further history evaluation revealed somnolence, fatigue, constipation, dry skin, low intellectual capacity. Until this time all these symptoms have been attributed to their primary status and have not been further evaluated. Their estradiol levels were in pubertal range while FSH and Luteinizing Hormone (LH) levels were low. These laboratory results confirmed peripheral precocious puberty diagnosis. Their prolactin levels were twice of the normal range. Pelvic ultrasound revealed pubertal size uterus and multicystic large ovaries. VWGS diagnosis was made by primary hypothyroidism, precocious puberty and multicystic ovaries. Thyroid hormone replacement therapy was started, symptoms resolved over time and bleeding stopped.
In conclusion, bone age delay, growth retardation with precocious puberty should be warning signs for VWGS. In these cases like Down Syndrome and cerebral palsy, symptoms like growth retardation, pubertal problems, intellectual disability, malnutrition may mask long term effects of hypothyroidism and may cause treatment delay. We aim to emphasize that disabled patients should be assessed according to their special circumstances in terms of growth and neurocognitive development.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology