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Longevity of the hypopituitary patients from the island Krk : a follow-up studyKržišnik, Ciril, 1944-2024 ...Patients with dwarfism on the Krk island in the Adriatic Sea have been known since 1864. Since then 25 related dwarfs (15 males and 10 females) originatingfrom the villages Bascanska Draga and ... Jurandvor have been recorded.The last patient was born in 1996 and was diagnosed in 2004. In 1988 we were able to prove that the etiology of the hereditary multiple pituitary deficiencies (MPHD) causing the dwarfism is due to a PROP-1 gene mutation, a pituitary transcription factor. During visits in 1988, 1990 and 2007 data on the life span of these patients not treated by growth and sex hormone were collected. We found data for 9 patients (5 males and 4 females). One female died in an accident at age 61; 6 patients (3 males and 3 females) died betweenages 68 and 91 due to cardiovascular disease. Two males died at ages 77and 83, cause unknown. It is concluded that despite the long lasting GH and sex hormone deficiencies and irregular thyroid hormone ingestion, patients with congenital MPHD due to Prop-1 gene defects can live a long life.Vir: Pediatric endocrinology review. - ISSN 1565-4753 (Vol. 7, iss. 4, 2010, str. 357-362)Vrsta gradiva - članek, sestavni delLeto - 2010Jezik - angleškiCOBISS.SI-ID - 29598937
Avtor
Kržišnik, Ciril, 1944-2024 |
Grgurić, Snježana |
Cvijović, Katarina |
Laron, Zvi
Teme
Base Sequence |
Croatia |
Follow-Up Studies |
Frameshift Mutation |
Homeodomain Proteins |
Genetics |
Physiology |
Hypopituitarism |
Genetics |
Physiopathology |
Longevity |
Genetics |
Physiology |
Molecular Sequence Data |
Pedigree |
Pituitary Gland |
Physiopathology |
Rodovnik |
Molekulsko zaporedje, podatki |
Hipofiza |
Okvirni položaj, mutacija |
Baze, zaporedje |
Dolgost življenja |
Hrvaška |
Sledilne študije |
Homeodomenske beljakovine |
Hipopituitarizem
Vnos na polico
Trajna povezava
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Faktor vpliva
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Kržišnik, Ciril, 1944-2024 | 02278 |
Grgurić, Snježana | |
Cvijović, Katarina | |
Laron, Zvi |
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