Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

CH Gravholt, NH Andersen, GS Conway… - European journal of …, 2017 - academic.oup.com
Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …

Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications

MJJ Finken, M van der Steen, CCJ Smeets… - Endocrine …, 2018 - academic.oup.com
Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson …

P Cohen, AD Rogol, CL Deal, P Saenger… - The Journal of …, 2008 - academic.oup.com
Objective: Our objective was to summarize important advances in the management of
children with idiopathic short stature (ISS). Participants: Participants were 32 invited leaders …

Prevention and treatment of pediatric obesity: an endocrine society clinical practice guideline based on expert opinion

GP August, S Caprio, I Fennoy… - The Journal of …, 2008 - academic.oup.com
Objective: Our objective was to formulate practice guidelines for the treatment and
prevention of pediatric obesity. Conclusions: We recommend defining overweight as body …

Short stature due to SHOX deficiency: genotype, phenotype, and therapy

G Binder - Hormone research in paediatrics, 2011 - karger.com
SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing
gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and …

Genetic evaluation of short stature

A Dauber, RG Rosenfeld… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

The human pseudoautosomal region (PAR): origin, function and future

A Helena Mangs, BJ Morris - Current genomics, 2007 - ingentaconnect.com
The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair
and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex …

Idiopathic short stature: definition, epidemiology, and diagnostic evaluation

JM Wit, PE Clayton, AD Rogol, MO Savage… - Growth Hormone & IGF …, 2008 - Elsevier
Idiopathic short stature is a condition in which the height of the individual is more than 2 SD
below the corresponding mean height for a given age, sex and population, in whom no …

A track record on SHOX: from basic research to complex models and therapy

A Marchini, T Ogata, GA Rappold - Endocrine Reviews, 2016 - academic.oup.com
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …

Diagnostic approach in children with short stature

W Oostdijk, FK Grote… - Hormone Research in …, 2009 - karger.com
For early detection of pathological causes of growth failure proper referral criteria are
needed, as well as a thorough clinical, radiological and laboratory assessment. In this …