Results 31 to 40 of about 7,286 (173)

Leri-Weill dyschondrosteosis: An under-recognised cause of short stature

South African Journal of Radiology, 2009
Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated.
E G Lemire, S Wiebe
doaj   +1 more source

Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature

Revista Peruana de Medicina Experimental y Salud Pública, 2016
Objectives. To describe the standardization of molecular detection and frequency of a growth hormone receptor gene deleted for exon three (GHRd3) polymorphism in a population of Peruvian children with idiopathic short stature.
Carlos Del Águila, César Ortiz, Mirtha Yarlequé, Candy Bellido, Miguel Zaldivar, Juan Falen   +5 more
doaj   +1 more source

Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS) [PDF]

Journal of Clinical Research in Pediatric Endocrinology, 2011
The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty,
Pedicelli S, Peschiaroli E, Violi E, CIANFARANI, STEFANO   +3 more
openaire   +3 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Ectopic Neurohypophysis: Report of Two Cases

Endocrinology Research and Practice, 2022
A 24-year-old boy and a 19-year-old girl were referred to our clinic with idiopathic short stature and multiple pituitary hormone deficiencies. Case 1 presented with short stature, hypogonadism and hypocortisolism while the second case had hypothyroidism
Neslihan Başcıl Tütüncü, Nilgün Güvener Demirağ, Tomris Erbaş, Olcay Gedik   +3 more
doaj   +2 more sources

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Idiopathic Short Stature: Conundrums of Definition and Treatment [PDF]

International Journal of Pediatric Endocrinology, 2009
Children with idiopathic short stature (ISS) are statistically defined by height SDS < -2 for their bone age and should be distinguished from children with familial short stature for whom height SDS corresponds to mean parental SDS and from the most common explanation for short stature referred to pediatric endocrinologists, constitutional delay in ...
openaire   +2 more sources

Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS ...
Ylenia Giorgianni, Cecilia Lugarà, Francesca Franchina, Mariella Valenzise, Giorgia Pepe, Tommaso Aversa   +5 more
doaj   +1 more source

Baseline characteristics of patients on growth hormone therapy: Experience of two centers from South India

Journal of Dr. NTR University of Health Sciences, 2015
Objective: The objective of this study is to determine the age at presentation, etiology and other characteristics of short children who are on growth hormone therapy (GHT) at a tertiary care hospital.
Babulreddy Hanmayyagari, Mounika Guntaka, Sunitha Chadalavada, Voleti Sri Nagesh, Sudhakar Reddy Pendyala, Sridevi Patnala   +5 more
doaj   +1 more source