Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing
نویسندگان
چکیده
منابع مشابه
Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.
OBJECTIVE Four distinct familial types of isolated GH deficiency (IGHD) are classified, of which type II, IGHD II, is the autosomal dominant inherited form. Based on clinical data, it became evident that there is a wide variability in phenotype among the various GH-1 gene alterations leading to the disorder. As subjects suffering from IGHD II caused by the specific missense mutated P89L GH (C61...
متن کاملIsolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin.
OBJECTIVE To determine the specific morphology of the pituitary gland in children with severe isolated GH deficiency due to GH-1 gene mutations (IGHD type II). DESIGN The pituitary gland morphology in magnetic resonance imaging (MRI) of children with IGHD type II was analyzed and compared with the findings in a group of children with comparably severe IGHD of unknown origin. In addition, the ...
متن کاملEvolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.
BACKGROUND Type II isolated GH deficiency (IGHD type II) is caused by dominant negative splicing or point mutations of the GH-1 gene. Studies have suggested that dominant mutant GH forms prevent the secretion of wild-type GH, resulting in eventual cell death; surprisingly, some patients with these GH mutations develop other hormonal deficiencies (ACTH, TSH). SUBJECTS The proband presented at ...
متن کاملTransitional care of GH deficiency: when to stop GH therapy.
While the benefits of growth hormone (GH) therapy in adult hypopituitary patients with GH deficiency (GHD) are established, the role of continued GH therapy after final height in adolescent GH-deficient patients remains unclear. Preliminary data suggest that cessation of GH on completion of linear growth may be associated with impairment of somatic development and adverse changes in body compos...
متن کاملGH deficiency in adults.
Until the last decade, the diagnosis of GH deficiency (GHD) in adults was only considered as a marker of hypothalamo-pituitary disease. GHD in adults is now recognized as a specific clinical syndrome associated with a cluster of cardiovascular risk factors such as altered body composition with increased body fat, insulin resistance, adverse lipid profile, reduced physical performance, reduced b...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Endocrinology
سال: 2016
ISSN: 0013-7227,1945-7170
DOI: 10.1210/en.2015-2038