Case report reveals a young boy with unilateral lymphedema and hypergonadotropic hypogonadism, indicating potential links to Noonan syndrome.
A 16-year-old boy came with diffuse, painless, non-pitting swelling of the left lower limb for two years. He had bilateral cryptorchidism. Laboratory evaluation for filariasis was unremarkable. He had hypergonadotropic hypogonadism. Clinical features were suggestive of Noonan syndrome (van der Burgt criteria). Abnormal lymphatics are common in Noonan syndrome; however, unilateral lymphedema has been rarely reported.
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Singha et al. (2023) studied this question.
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