SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
-
Erdal Kurnaz
,
Şenay Savaş-Erdeve
Abstract
Background
The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of SHOX haploinsufficiency could be advantageous to early diagnosis and treatment. We investigated the rate of SHOX haploinsufficiency in patients of short stature and documented their anthropometric measurements.
Methods
Between 2010 and 2017, we evaluated 86 patients (70 females, 16 males; age 4.3–18 years) with clinical diagnoses of short stature and Madelung deformity (MD). Clinical abnormalities are presented for patients with MD with and without SHOX haploinsufficiency as determined by fluorescence in situ hybridisation (FISH).
Results
According to our inclusion criteria, 78 of 86 patients (70 females, 16 males) had short stature (height <−2.5 standard deviation [SD]) and a family history suggestive of short stature. Eight patients had short stature, a family history suggestive of short stature and MD. MD was obvious in eight children in radiographic examinations. Although five of these had no deletion of SHOX, three had deletion of this gene. The deletion detection rate was 37.5% in the individuals with short stature and MD, i.e. Leri-Weill dyschondrosteosis syndrome (LWS), whilst no deletions were detected in the individuals with only short stature. One individual responded well to growth hormone (GH) treatment for the first 2 years but then developed an intolerance with persistently elevated insulin-like growth factor-1 (IGF-1) levels.
Conclusions
As we likely missed cases due to our methodology, the routine analysis for SHOX screening should be firstly multiplex ligation-dependent probe amplification (MLPA). The incidence of MD may have been higher in the cohort if X-rays were performed in all individuals. GH treatment was not well tolerated in one case due to persistently elevated IGF-1 levels, and long-term evaluations of patients with SHOX deficiency are required.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Carotid intima media thickness and associations with serum osteoprotegerin and s-RANKL in children and adolescents with type 1 diabetes mellitus with increased risk for endothelial dysfunction
- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
- FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
- Case Reports
- A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
- Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Carotid intima media thickness and associations with serum osteoprotegerin and s-RANKL in children and adolescents with type 1 diabetes mellitus with increased risk for endothelial dysfunction
- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
- FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
- Case Reports
- A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
- Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
