The Clinical Septet of Van Wyk-Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India.

Swaraj Waddankeri, Meenakshi Waddankeri, Shrikant Waddankeri, Kshitij Arora
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Abstract

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.

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Van Wyk-Grumbach综合征的临床特征:来自印度卡纳塔克邦Kalyana三级保健中心的病例系列。
Van Wyk-Grumbach综合征是一种罕见的女性青少年甲状腺功能减退症,以性早熟为特征,伴有临床、放射学和激素病理学。我们提出了一个由三名患有这种不寻常疾病的患者组成的病例系列,他们在2017年1月至2020年6月的3年期间进行了评估和随访。三名患者均表现为身材矮小(
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