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hypopituitarism/prolina
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L-proline loading for the assessment of pituitary GH reserve.
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Intravenous insulin (0.1 U/kg body weight) and oral 1-proline (100 mg/kg body weight) tolerance tests were performed in 22 healthy and 30 short-statured children and adolescents and blood glucose, serum immunoreactive growth hormone (GH), immunoreactive insulin (IRI) and 1-proline were determined.
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
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To ascertain the molecular background of combined pituitary hormone deficiency, screening for mutations in the pituitary-specific transcription factor (Pit-1/GHF-1) gene (PIT1) was performed on a cohort of 15 children from Russia with combined growth hormone (GH)/prolactin (Prl)/thyroid-stimulating
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.
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A point mutation in the POU-specific portion of the human gene that encodes the tissue-specific POU-domain transcription factor, Pit-1, results in hypopituitarism, with deficiencies of growth hormone, prolactin, and thyroid-stimulating hormone. In two unrelated Dutch families, a mutation in Pit-1
Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1.
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Pit-1 stimulates the expression of growth hormone, prolactin, and thyrotropin beta subunit genes. Consequently, abnormality of the Pit-1 gene results in combined pituitary hormone deficiency (CPHD). In this study, we analyzed the function of Pit-1 with a mutation (proline to leucine at codon 24) in
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessively inherited disorder characterized by variable combinations of endocrine and nonendocrine symptoms. In this report, we describe two 20- and
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