Journal ArticleDOI
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma
Paola Cambiaso,Stefania Galassi,Melania Palmiero,Angela Mastronuzzi,Francesca Del Bufalo,Rossella Capolino,Antonella Cacchione,Paola Sabrina Buonuomo,Michaela Veronika Gonfiantini,Andrea Bartuli,Marco Cappa,Marina Macchiaiolo +11 more
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TLDR
It is demonstrated that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty, and these patients should undergo frequent accurate auxologic evaluations.Abstract:
In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion. Seven out of 64 children (10.9%) with NF1 and optic pathways glioma showed GH excess, isolated in 5 cases and associated to central precocious puberty in 2. All the children with GH excess had a tumor involving the chiasma. Children with GH excess underwent medical treatment with lanreotide and a minimum clinical/biochemical follow up of 2 years is reported. The present study demonstrates that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty. Therefore, these patients should undergo frequent accurate auxologic evaluations. On the other hand, an increase in height velocity in children with NF1, even despite normal ophthalmological exams, can suggest the presence of OPG and therefore represents an indication to perform brain MRI.read more
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Journal ArticleDOI
Radiographic Atlas of Skeletal Development of the Hand and Wrist
M. Maresh,A. H. Washburn +1 more
TL;DR: The Brush Foundation studies on human growth and development, begun in 1931 and terminated in 1942, have been intensively reviewed and studied by Dr. Greulich and Miss Pyle in the formulation of this Radiographic Atlas of Skeletal Development of the Hand and Wrist.
Journal ArticleDOI
The causes and consequences of pituitary gigantism.
TL;DR: Nearly 50% of patients with pituitary gigantism have a known underlying genetic cause; therefore, these patients should be strongly considered for genetic counselling and screening.
Journal ArticleDOI
The Genetics of Pituitary Adenomas
TL;DR: Tumor genetic defects in USP8, GNAS, USP48 and BRAF are some of the commonly encountered tissue-specific changes and may explain a larger percentage of the developed tumors.
Journal ArticleDOI
Somatic and germline mutations in the pathogenesis of pituitary adenomas.
TL;DR: The aim of the present review is to provide an overview on the genetic pathophysiology of pituitary adenomas and their clinical relevance.
Journal ArticleDOI
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study
Claudia Santoro,Silverio Perrotta,Stefania Picariello,Martina Scilipoti,Mario Cirillo,Lucia Quaglietta,Giuseppe Cinalli,Daniela Cioffi,Natascia Di Iorgi,Natascia Di Iorgi,Mohamad Maghnie,Mohamad Maghnie,Annalisa Gallizia,Annalisa Gallizia,Maria Parpagnoli,Federica Messa,Luisa De Sanctis,Silvia Vannelli,Pierluigi Marzuillo,Emanuele Miraglia del Giudice,Anna Grandone +20 more
TL;DR: Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent.
References
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Journal ArticleDOI
Variations in pattern of pubertal changes in girls.
W. A. Marshall,James M. Tanner +1 more
TL;DR: The extent of normal individual variation observed in the events of puberty among the girls of the Harpenden Growth Study is described.
Journal ArticleDOI
Variations in the Pattern of Pubertal Changes in Boys
W. A. Marshall,James M. Tanner +1 more
TL;DR: Mixed longitudinal data on the physical changes at puberty in 228 normal boys are presented together with normal standards for stages of genital and pubic hair development, finding that boys' genitalia begin to develop only about 6 months later than the girls' breasts and Pubic hair appears about 1½ years later in boys than in girls.
Journal ArticleDOI
Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty.
J M Tanner,R H Whitehouse +1 more
TL;DR: New charts for height, weight, height velocity, and weight velocity are presented for clinical (as opposed to population survey) use, based on longitudinal-type growth curves, using the same data as in the British 1965 growth standards.
Journal ArticleDOI
Variations in pattern of pubertal changes in girls
TL;DR: The extent of normal individual variation observed in the events of puberty among the girls of the Harpenden Growth Study is described.
Journal ArticleDOI
Radiographic Atlas of Skeletal Development of the Hand and Wrist
M. Maresh,A. H. Washburn +1 more
TL;DR: The Brush Foundation studies on human growth and development, begun in 1931 and terminated in 1942, have been intensively reviewed and studied by Dr. Greulich and Miss Pyle in the formulation of this Radiographic Atlas of Skeletal Development of the Hand and Wrist.
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