Key result
Rare genetic Sanjad-Sakati syndrome presents primarily with hypoparathyroidism alongside other endocrinological manifestations.
Why the study?
Hypoparathyroidism is the hallmark endocrinological feature of Sanjad-Sakati syndrome, but other endocrine manifestations associated with the syndrome require elucidation.
This review highlights that while hypoparathyroidism is the hallmark endocrinological feature of Sanjad-Sakati syndrome, other endocrine manifestations can also occur.
May improve recognition of endocrine comorbidities in Sanjad-Sakati syndrome; leaves open prospective data on management.
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a very rare genetic disorder with an autosomal recessive mode of inheritance, mostly seen in children of Middle Eastern origin. Hypoparathyroidism remains the most characteristic endocrinological feature of SSS; but not the only one. This review outlines and elucidates other endocrinological manifestations that may be seen with this syndrome.
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Bashar et al. (2020) conducted a review in Sanjad-Sakati syndrome (SSS). Sanjad-Sakati syndrome is a rare genetic disorder characterized primarily by hypoparathyroidism, along with other endocrinological manifestations.
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