ESPE Abstracts

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.

Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Investigations revealed TSH = 2288 uIU/ml and FT4 = 0.09 ng/dl, LH =0.11 mIU/ml, FSH = 1.2 mIU/ml, and Anti TPO = 600 U/ml and anti-thyroglobulin antibody = 296 U/ml. Ct of the abdomen showed bilateral adnexal multi-locular masses. The right = 8×7.5×10.5 cm and the left = 4.5 ×8.5 × 7 m. There were no enhancing solid components identified. There were a diffuse mural vaginal thickening and endo-vaginal collection and bulky uterus. L thyroxine was prescribed 75 mg OD. After a month on thyroxine therapy, FT4 =2.6 ng/dl, TSH = 2.43 mIU/ml. Her ultrasonographic evaluation showed marked regression of the two adnexal lesions 9 right = 5.3 × 4.3 × 3.1 cm, and left = 4.4 × 3.5 × 2.9. The uterine body measured 4.7 × 1.7 cm.

Discussion: Significant regression of the ovarian masses occurred as early as 1 month after replacing thyroid hormone in this girl with VWGS. The etiology of her hypothyroid status was autoimmune. Given the presence of significant ovarian masses, a surgical emergency such as ovarian torsion or rupture must be ruled out. Even when the diagnosis of VWGS is confirmed, practitioners must be watchful to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement.

Conclusion: VWGS should be considered in the differential diagnosis of young girls with ovarian masses with vaginal bleeding and hypothyroidism. The prognosis is good with thyroid replacement therapy.