Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency [PDF]
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the ...
Ali Oghabian+11 more
core +2 more sources
Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J+3 more
core +1 more source
The visceral adiposity index is associated with insulin sensitivity and IGF-I levels in adults with growth hormone deficiency [PDF]
The visceral adiposity index, based on anthropometric and metabolic parameters, has been shown to be related to adipose tissue function and insulin sensitivity.
Ciresi, A.+3 more
core +1 more source
Harmonization of growth hormone measurements with different immunoassays by data adjustment [PDF]
Background: The aim of our study was to evaluate the between-assay variability of commercially available immunoassays for the measurement of human growth hormone (hGH).
Bidlingmaier, Martin+10 more
core +1 more source
Diagnosis and Treatment of Hypopituitarism [PDF]
Hypopituitarism is a chronic endocrine illness that caused by varied etiologies. Clinical manifestations of hypopituitarism are variable, often insidious in onset and dependent on the degree and severity of hormone deficiency.
Seong Yeon Kim
doaj +1 more source
TREATMENT OF GROWTH-HORMONE DEFICIENCY WITH GROWTH-HORMONE-RELEASING HORMONE
18 prepubertal growth-hormone (GH)-deficient children were treated with twice-daily subcutaneous injections of a growth-hormone-releasing hormone analogue, GHRH (1-29) NH2. In 12 of the children the height velocity rose on GHRH treatment, and 8 were judged to have shown a worthwhile response to therapy in that their height velocities during the first 6
Ross, R.J.M.+8 more
openaire +3 more sources
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 [PDF]
BACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized.
Audrey Briand-Suleau+14 more
core +3 more sources
Growth hormone treatment for growth hormone deficient adults [PDF]
Growth hormone (GH) deficiency in adults is now recognized as a clinical syndrome with characteristic signs and symptoms. Numerous trials with daily subcutaneous biosynthetic human growth hormone (hGH) have been conducted in this patient group. Generally, improvements in insulin-like growth factor levels, decreases in total fat mass and increases in ...
Martin J. Kendall, Wayne M. Clark
openaire +3 more sources
Benefits and risks of growth hormone in adults with growth hormone deficiency [PDF]
[Resumen] La deficiencia de hormona del crecimiento («growth hormone», GH) en el adulto es un síndrome clínico plenamente reconocido que entraña consecuencias adversas para la salud.
Cordido, Fernando, Díez, Juan José
core +2 more sources
Background. According to world statistics, about 5–10 % of newborns are small for gestational age (SGA). They can have inadequate rates of postnatal growth during first two years of life.
O.V. Bolshova, N.M. Muz
doaj +1 more source