SUN-200 Unraveling the Diagnostic Challenge of Van Wyk Grumbach Syndrome in Poorly Controlled Type 1 DM: A Rare Thyroid Complication Requiring Timely Intervention

Abstract Disclosure: P. Kukunoor: None. M. Katta: None. B. Korlakunta: None. S. Kotharu: None. R. Devulapally: None. H. Bunga: None. D. Korlakunta: None. Background: This case study explores a rare complication of long-standing, untreated hypothyroidism Van Wyk–Grumbach syndrome [VWGS] which is often misinterpreted due to its overlapping symptoms with other endocrine disorders. Hypothyroidism may contribute to metabolic disturbances, that may exacerbate T1DM and lead to frequent DKA episodes.[1]Case Presentation:A 12-year-old female born from a 1st degree consanguineous marriage presented with a 45-day history of progressive shortness of breath, initially grade 1, worsening to grade 4 in 2 days. The associated symptoms are chronic constipation (2-3 times/week), excessive sleepiness, and swelling of both legs. She is diagnosed with T1DM at 3 years of age with a history of frequent hospitalizations due to DKA. Menarche is attained at 10 years of age with infrequent and irregular cycles.On clinical examination, the patient had disproportionate short stature (<3rd percentile) with an upper/lower segment ratio of 1.2. Axial/pubic hair was absent with no breast bud development indicating a sexual maturation rate of A1B1P1. Other findings included a depressed nasal bridge, dry skin, pallor and non-pitting generalized edema with facial puffiness. Laboratory investigations revealed severe anemia (Hb 4.5 g%), overt hypothyroidism (markedly elevated TSH, low free T4, anti-TPO antibodies positive), hyperglycemia (serum glucose 560 mg/dL), decreased LH and increased FSH levels and hypercholesterolemia. Imaging studies revealed bilateral polycystic ovaries, significantly delayed bone age, mild pericardial effusion and fatty liver. These features of hypothyroidism, isosexual precocious puberty, and delayed bone age, collectively point toward the classic triad of VWG syndrome. The patient was given a packed red blood cell transfusion for anemia, levothyroxine therapy (37.5 mcg/day), and insulin dosage adjustments. After 2 months, the patient showed marked remission of symptoms, indicating a positive response. Continued monitoring is essential to ensure sustained recovery. Conclusion: VWGS is a rare complication of hypothyroidism, characterized by diverse manifestations and associations, posing a significant diagnostic challenge. However, being a preventable condition, this case highlights early diagnosis and prompt treatment are essential to prevent morbidity and long-term complications. Hypothyroidism can frequently occur in association with T1DM, necessitating routine thyroid screening.[1]Reference:1.Al Jabri A, Al Johar A, Yacoubi MT. A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review. Integr J Med Sci. 2023 Jan15 Presentation: Sunday, July 13, 2025