Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome
CL Deal, M Tony, C Höybye, DB Allen… - The Journal of …, 2013 - academic.oup.com
Context: Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been
used by the medical community and advocated by parental support groups since its …
used by the medical community and advocated by parental support groups since its …
Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective
The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to
evaluate the diagnosis and therapy of short stature in children. Forty-six international experts …
evaluate the diagnosis and therapy of short stature in children. Forty-six international experts …
Sudden death in growth hormone–treated children with Prader-Willi syndrome
A 4-year-old boy with Prader-Willi syndrome died suddenly while asleep on day 67 of growth
hormone treatment. During treatment, snoring had worsened. Autopsy showed multifocal …
hormone treatment. During treatment, snoring had worsened. Autopsy showed multifocal …
Parental genomic imprinting of the human IGF2 gene
The mouse igf2 gene, coding for the insulin–like growth factor II (IGF–II) is parentally
imprinted, only the gene copy derived from the father is expressed. To know whether IGF2, the …
imprinted, only the gene copy derived from the father is expressed. To know whether IGF2, the …
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene
…, G Lagacé, N Masson, C Huot, C Deal… - The Journal of …, 1997 - academic.oup.com
Isolated central hypothyroidism, characterized by insufficient TSH secretion resulting in low
levels of thyroid hormones, is a rare disorder. We report a boy in whom isolated central …
levels of thyroid hormones, is a rare disorder. We report a boy in whom isolated central …
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer
syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia …
syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia …
GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults
Recombinant human GH (rhGH) has been in use for 30 years, and over that time its safety
and efficacy in children and adults has been subject to considerable scrutiny. In 2001, a …
and efficacy in children and adults has been subject to considerable scrutiny. In 2001, a …
Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal
…, J Paquette, C Huot, G Van Vliet, C Deal - The Journal of …, 2005 - academic.oup.com
Primary adrenal insufficiency (PAI) in the pediatric population (0–18 yr) is most commonly
attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, …
attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, …
Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators
C Deal, J Ma, F Wilkin, J Paquette… - The Journal of …, 2001 - academic.oup.com
Insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) is a major determinant of
circulating levels of the IGFs and is clinically useful for the evaluation of GH deficiency and for …
circulating levels of the IGFs and is clinically useful for the evaluation of GH deficiency and for …
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency
Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin
(POMC) gene and for terminal differentiation of the pituitary corticotroph …
(POMC) gene and for terminal differentiation of the pituitary corticotroph …