Waddankeri Swaraj, Waddankeri Meenakshi, Waddankeri Shrikant, Arora Kshitij
Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India.
touchREV Endocrinol. 2023 May;19(1):98-102. doi: 10.17925/EE.2023.19.1.98. Epub 2023 Feb 6.
Van Wyk-Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary 'macroadenoma'. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.
范·怀克 - 格鲁姆巴赫综合征是一种罕见的女性青少年甲状腺功能减退症，其特征为性早熟，并伴有临床、影像学和激素方面的病变。我们报告了一组3例患有这种罕见病症的病例系列，这些患者在2017年1月至2020年6月的3年期间接受了评估和随访。所有3例患者均表现为身材矮小（低于第3百分位数）、体重低（低于第3百分位数）、无甲状腺肿大、无腋毛或阴毛、骨龄延迟超过2年、促甲状腺激素升高伴T3和T4水平降低（原发性甲状腺功能减退），以及促卵泡生成素升高伴青春期前水平的促黄体生成素。腹部超声检查显示，2例患者双侧卵巢多囊样改变，第3例患者右侧卵巢增大。其中1例患者还患有垂体“大腺瘤”。所有患者均通过左甲状腺素成功治疗。我们结合简短的文献综述讨论了其病理生理机制。
