SAT-121 Van WYK- Grumbach Syndrome: A case report

Abstract Disclosure: D. Dash: None. D. Ayyagari: None. D. Puran: None. D. Pandey: None. IntroductionVan WYK- Grumbach Syndrome (VWGS) is a rare syndrome in pre-pubertal girls associated with long standing untreated hypothyroidism, cause stimulation of FSH receptors leading to bilateral enlarged multi-cystic ovaries, iso-sexual precocious pseudo-puberty, and delayed bone age. Case presentationWe report a case of 4 year 8 month old girl presenting with bleeding per vagina (PV) for 10 days, enlargement of both breasts for past 2 months. Physical examination revealed significant short stature (height < 5th centile CDC), with breast enlargement tanner stage 3 without axillary or pubic hair. She was anemic with coarse facial features (thick lips, protruded tongue) and protruded abdomen. Bone age was 3 years(Greulich pyle). There was no pericardial effusion, galactorrhoea, hirsutism or cafe au lait spots. Investigation revealed biochemical evidence of primary hypothyroidism (TSH>100IU/ml) with pre-pubertal gonadotropins and estrogen. Anti-TPO antibody was positive. Ultrasonography of abdomen showed bilateral multicystic ovaries. She was treated with thyroxine replacement therapy. At 3 month follow-up visit, she was clinically & biochemically euthyroid, had no further per vaginal bleeding, and breast size reduced to Tanner Stage 2. Abdominal protrusion and coarse features had resolved. Discussion: VWGS is one of the syndromes of GnRH-independent sexual precocity, presenting with per vaginal bleeding and breast enlargement, but no pubic hair in girls and macroorchidism in boys. Stimulation of the gonadal FSH receptor by TSH leads to a FSH/oestrogen dominant clinical syndrome with breast development, follicular cysts, and menstruation presenting the predominant clinical features of pseudo-precocious puberty. The severity of the TSH elevation may be proportionate to the severity sexual precocity, with reversal of clinical features and pathology to a pre-pubertal state following thyroid hormone replacement. Conclusion: Precocious puberty needs meticulous history, clinical examination and biochemical diagnosis. The presence of enlarged ovaries and precocious puberty may suggest an estrogen secreting ovarian tumour. However, pre-pubetal gonadotrophin and estogen levels should raise the suspicion of VWGS. VWGS presents a rare but treatable cause of precocious puberty, which, with timely diagnosis, and initiation of an inexpensive drug, thyroxine, will allow us to avoid unnecessary and expensive investigations and interventions. Presentation: Saturday, July 12, 2025