نتایج جستجو برای: congenital hypopituitarism
تعداد نتایج: 121663 فیلتر نتایج به سال:
INTRODUCTION Measuring thyroid stimulating hormone levels alone may be insufficient to appropriately evaluate thyroid function. Reduced thyroid stimulating hormone levels associated to normal/reduced FT4 levels should prompt investigation of pituitary function, on suspicion of hypopituitarism. Pituitary macroadenomas are the most common cause of hypopituitarism; among these, macroprolactinomas ...
Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic functional evidence for a novel gene-disease connection expands the list of central nervous system diseases caused by impairment trans-Golgi network.
type transthyretin as well as other fibrillar proteins. To our knowledge, this is the first case report of vitreoretinal amyloidosis in the absence of transthyretin mutations. In addition, no signs of systemic amyloidosis suggestive of FAP were evident 7 years after the patient’s initial presentation, although we cannot exclude the possibility of a subclinical level of amyloid deposition in oth...
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