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https://www.readbyqxmd.com/read/27585961/diagnosis-and-management-of-silver-russell-syndrome-first-international-consensus-statement
#1
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype...
February 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28977209/the-use-of-aromatase-inhibitors-in-boys-with-short-stature-what-to-know-before-prescribing
#2
REVIEW
Alessandra Linardi, Durval Damiani, Carlos A Longui
Aromatase is a cytochrome P450 enzyme (CYP19A1 isoform) able to catalyze the conversion of androgens to estrogens. The aromatase gene mutations highlighted the action of estrogen as one of the main regulators of bone maturation and closure of bone plate. The use of aromatase inhibitors (AI) in boys with short stature has showed its capability to improve the predicted final height. Anastrozole (ANZ) and letrozole (LTZ) are nonsteroidal inhibitors able to bind reversibly to the heme group of cytochrome P450. In this review, we describe the pharmacokinetic profile of both drugs, discussing possible drug interactions between ANZ and LTZ with other drugs...
July 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27828722/genetics-of-combined-pituitary-hormone-deficiency-roadmap-into-the-genome-era
#3
Qing Fang, Akima S George, Michelle L Brinkmeier, Amanda H Mortensen, Peter Gergics, Leonard Y M Cheung, Alexandre Z Daly, Adnan Ajmal, María Ines Pérez Millán, A Bilge Ozel, Jacob O Kitzman, Ryan E Mills, Jun Z Li, Sally A Camper
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning. We expect that the application of high throughput sequencing will uncover additional contributing genes and eventually become a valuable tool for molecular diagnosis. For example, in the last 3 years, six new genes have been implicated in CPHD using whole-exome sequencing...
December 2016: Endocrine Reviews
https://www.readbyqxmd.com/read/26720129/growth-and-the-growth-hormone-insulin-like-growth-factor-1-axis-in-children-with-chronic-inflammation-current-evidence-gaps-in-knowledge-and-future-directions
#4
REVIEW
S C Wong, R Dobie, M A Altowati, G A Werther, C Farquharson, S F Ahmed
Growth failure is frequently encountered in children with chronic inflammatory conditions like juvenile idiopathic arthritis, inflammatory bowel disease, and cystic fibrosis. Delayed puberty and attenuated pubertal growth spurt are often seen during adolescence. The underlying inflammatory state mediated by proinflammatory cytokines, prolonged use of glucocorticoid, and suboptimal nutrition contribute to growth failure and pubertal abnormalities. These factors can impair growth by their effects on the GH-IGF axis and also directly at the level of the growth plate via alterations in chondrogenesis and local growth factor signaling...
February 2016: Endocrine Reviews
https://www.readbyqxmd.com/read/26578640/mechanisms-in-endocrinology-novel-genetic-causes-of-short-stature
#5
REVIEW
Jan M Wit, Wilma Oostdijk, Monique Losekoot, Hermine A van Duyvenvoorde, Claudia A L Ruivenkamp, Sarina G Kant
The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature...
April 2016: European Journal of Endocrinology
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