• Publications
  • Influence
Recommendations for the diagnosis and management of Prader-Willi syndrome.
TLDR
The diagnosis and management of this complex disorder requires a multidisciplinary approach with particular emphasis on the importance of early diagnosis using accredited genetic testing, use and monitoring of GH therapy from early childhood, control of the food environment and regular exercise.
International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001.
TLDR
The objectives of GH therapy in short children who are SGA are catch-up growth in early childhood, maintenance of normal growth in childhood, and achievement of normal adult height.
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal
Children Born Small for Gestational Age: Do They Catch Up?
TLDR
The majority (around 85%) of the healthy SGA infants showed catch-up growth to a height ≥P3 during the first 2 y of life, and birth weight SDS was the best predictor for catch- up >P3 in full-term S GA infants.
Adult height after long-term, continuous growth hormone (GH) treatment in short children born small for gestational age: results of a randomized, double-blind, dose-response GH trial.
TLDR
Long-term continuous GH treatment in short children born small for gestational age (SGA) without signs of persistent catch-up growth leads to a normalization of AH, even with a GH dose of 3 IU/m(2).d.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
TLDR
Observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling.
Timing and tempo of first-year rapid growth in relation to cardiovascular and metabolic risk profile in early adulthood.
TLDR
Rapid weight gain during the first 3 months of life resulted in a higher percentage of body fat, more central adiposity, and reduced insulin sensitivity in early adulthood than when slower weight gain occurred during the entire first year.
Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome
TLDR
Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions.
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.
TLDR
Morning salivary cortisol levels and diurnal profiles were normal in all children, suggesting that CAI becomes apparent only during stressful conditions, and one should consider treatment with hydrocortisone during acute illness in Prader-Willi syndrome patients unless CAI has recently been ruled out with a metyrapone test.
Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial.
TLDR
5-yr data show that long term continuous GH treatment at a dose of 3 or 6 IU/m2 x day in short children born SGA results in a normalization of height during childhood followed by growth along the target height percentile.
...
...