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Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-229016
Abstract: Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature.…
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Keywords:
hormone deficiency;
joubert syndrome;
pituitary hormone;
multiple pituitary ... See more keywords
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Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0366
Abstract: Abstract Objectives To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a…
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Keywords:
hormone;
pituitary hormone;
pituitary stalk;
hormone deficiency ... See more keywords