ESPE Abstracts

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.

Case presentation: An 8 yrs old girl with Trisomy 21, presented with recurrent vaginal bleeding for 3 days prior to admission. She was born full-term, with normal birth weight. Medical history was remarkable for occasional constipation episodes that were treated with dietary interventions. Immunizations were incomplete. Physical exam revealed bradycardia (74 bbm), apathy, sluggishness, as well as dry skin and eyelid oedema (initially underestimated due to the typical facies of the syndrome), suggestive of severe hypothyroidism. She was prepubertal. Pending laboratory confirmation, causes of vaginal bleeding such as trauma, possible abuse, foreign body insertion and urethral prolapse were excluded. Laboratory tests revealed TSH >1000 μIU/ml, T4 0.65 μg/dl, FSH 9.22 mIU /ml <3.80), LH< 0.1mIU /ml, E2 256 pg/ml, ANTI-TPO 521.30 IU /ml, ANTI-TG 361.70 IU /ml, Β-hCG < 0.1mU/ml, PRL 1832 μIU/ml (58-471), confirming severe hypothyroidism. The combination of absence of breast tissue and very high estrogen levels were evocative of the presence of ovarian cyst that was verified by the abdominal sonogram that revealed bilateral ovarian cystic masses (V:26.69 cm³ and 14.38 cm³, right and left, respectively). The girl was diagnosed with VWGS and LT4 treatment was initiated, combined with LT3 for 2 weeks. Due to continuing bleeding, letrozole was added to treatment for 2 weeks. The patient responded with complete remission of symptoms and regression of the ovarian cysts one month after initiation of treatment.

Conclusion: It is very important to think of VWGS and investigate for thyroid status during the evaluation of ovarian cysts or isolated premature menarche. Early recognition can eliminate unnecessary extensive workup and/or surgery to remove ovarian cysts, as appropriate treatment with levothyroxine leads to complete remission of symptoms. Children with Down syndrome are more likely to develop hypothyroidism, so they should be screened annually.