ESPE Abstracts

Introduction: Van Wyk Grumbach Syndrome (VWGS) is characterized by untreated severe hypothyroidism, isosexual precocious puberty, multiple ovarian cysts and delayed bone age. The disorder is most likely due to complex interactions of the hormonal axis; (1) excess TSH stimulates the FSH-receptor, (2) pituitary enlargement and hyperstimulation, (3) secondary ovarian hyperstimulation. Although it is extremely rare, it is important to recognize before the unnecessary ovarian surgeries because of its curability with a simple thyroid hormone replacement. Here, we reported a case presented with precocious menarche and diagnosed as VWGS.

Case: A 5-year-and-3-month-old female was presented with menarche. There was no history of trauma or bleeding disorders or family history of precocious puberty.. Her parents reported fatigue, constipation, intolerance to cold and lack of appetite. She was born as the first child of healthy unrelated parents by normal vaginal delivery after uneventful pregnancy. In her family history, mother was being treated for autoimmune thyroiditis. On physical examination, weight was 18.5 kg (-0.1 standard deviation score (SDS)), height was 105 cm (-1.1 SDS). She was lethargic and pale. She had puffiness of face, dry brittle hair, depressed nasal bridge and short fingers. Her breast development was compatible with Tanner stage 3 without axillary or pubic hair. She had no goiter. Other systemic physical examination features were unremarkable. Initial laboratory investigations had shown normal electrolytes, renal and liver functions. She had macrocytic anemia with a hemoglobin level of 9.7 g/dl (N, 10.2-12.7). Hormonal evaluation revealed high TSH, anti-TPO, anti-TG, low free T4, suggesting Hashimoto thyroiditis and also increased FSH, estradiol, prolactin. Her bone age was compatible with 3 years and 6 months according to The Greulich and Pyle atlas. Ultrasonographic examination of the thyroid revealed thyroiditis with enlargement of the thyroid volume. Pelvic ultrasonography and MRI revealed pubertal uterus (41x20x25 mm) with an endometrial thickness of 7 mm, enlarged left ovary with multiple follicles, and multicystic mass with a size of 42x24x30 mm in the right ovary location. In summary, she had severe hypothyroidism, isosexual precocious puberty with delayed bone age and massive ovarian cysts. With these findings, a diagnosis of VWGS was considered and oral L-thyroxine replacement was started. Following thyroxine replacement, all abnormalities resolved and the multicystic mass structure in the ovaries disappeared completely.

Conclusion: The diagnosis of VWGS should be kept in mind because simple L-thyroxine replacement completely resolves symptoms and abnormalities and prevents unnecessary investigations for malignancies and surgeries.