ESPE Abstracts

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopathy. She had no breast development nor pubic hair. Her investigations revealed TSH = 2288 uIU/ml and FT4 = 0.09 ng/dl, LH = 0.11 mU/ml, FSH = 1.2 mIU/ml, and Anti TPO = 600 U/ml and anti-thyroglobin antibody = 296 U/ml. CT of the abdomen showed bilateral adnexal multi-locular masses. The right = 8x7.5x10.5 cm and the left = 4.5 x8.5 x 7 cm. There were no enhancing solid components identified. There was a diffuse mural vaginal thickening and endo-vaginal collection and bulky uterus. L thyroxine was prescribed 75 ug/OD. After a month on thyroxine therapy, FT4 = 2.6 ng/dl, TSH = 2.43 mIU/ml. Her Ultra-sonographic evaluation showed marked regression of the two adnexal lesions, right = 5.3 x4.3 x 3.1 cm and left = 4.4x 3.5x 2.9 cm. The uterine body measured 4.7 x 1.7 cm. After 2 months of therapy, complete regression of the masses occurred.

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

In this case it appeared that high TSH could produce FSH and LH like activity leading to multiple ovarian cysts. Significant regression of the ovarian masses occurred as early as one month after replacing thyroid hormone and normalization of TSH 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.