ArticleThe Pan African medical journal2026
[Observation of an index case of an autosomal dominant familial hypoparathyroidism revealed by recurrent hypocalcemia: a case report].
Article in The Pan African medical journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Primary hypoparathyroidism is a rare disorder responsible for recurrent hypocalcemia, the identification of which may lead to family screening. It can present with sensory and neuromuscular clinical manifestations that may, in severe cases, be life-threatening, or it may remain asymptomatic and be discovered incidentally. Its etiologies are diverse, and the main challenge lies in genetic investigation. Management must be both symptomatic and etiological. We here report the case of a 42-year-old woman presenting with recurrent hypocalcemia associated with low parathyroid hormone (PTH) levels, which led to the diagnosis of familial hypoparathyroidism in two of her asymptomatic daughters. Autosomal dominant inheritance is strongly suggested. This case highlights the need for biological screening of relatives and the growing importance of genetics in the etiology of primary hypoparathyroidism.
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