Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy
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Vaman Khadilkar
Abstract
Background:
With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year.
Methods:
Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score <−3) and failed GH stimulation test were studied. Those having concomitant thyroid hormone or cortisol deficiencies were appropriately replaced prior to starting GH treatment. A magnetic resonance imaging (MRI) brain scan was done in all. Genetic mutations were tested for in GH1, GHRH, LHX3, LHX4 and PROP1, POU1F1 and HESX1 genes.
Results:
Mean age at presentation was 9.7±5.1 years. Thirty-seven children (Group A) had no genetic mutation detected. Six children (Group B) had mutations in the GH releasing hormone receptor (GHRHR) gene, while eight children (Group C) had mutation in the GH1 gene. In two children, one each had a mutation in PROP1 and LHX3. There was no statistically significant difference in baseline height, weight and BMI for age z-score and height velocity for age z-score (HVZ). HVZ was significantly lower, post 1 year GH treatment in the group with homozygous GH1 deletion than in children with no genetic defect.
Conclusions:
Response to GH at the end of 1 year was poor in children with the homozygous GH1 deletion as compared to those with GHRHR mutation or without a known mutation.
Author contributions: Dr. Vaman Khadilkar, Dr. Anuradha Khadilkar, Dr. Nikhil Phadke and Dr. Kavita Khatod were involved in designing the study. Dr. Anuradha Khadilkar, Dr. Veena Ekbote, Dr. Supriya Phanse Gupte and Dr. Ruchi Nadar were involved in conducting the study and in data collection. Dr. Nikhil Phadke and Dr. Kavita Khatod were involved in genetic analysis and data interpretation. Dr. Veena Ekbote and Dr. Anuradha Khadilkar were involved in data analysis. All authors were involved in data interpretation and manuscript writing. 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 organization(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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©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- Multiple effects of probiotics on different types of diabetes: a systematic review and meta-analysis of randomized, placebo-controlled trials
- Original Articles
- Oral administration of diluted nasal desmopressin in managing neonatal central diabetes insipidus
- Does body fat percentage predict post-exercise heart rate response in non-obese children and adolescents?
- The relationship between insulin resistance and endothelial dysfunction in obese adolescents
- Neck circumference is similarly predicting for impairment of glucose tolerance as classic anthropometric parameters among healthy and obese children and adolescents
- Reduced bone mineral density in Chinese children with phenylketonuria
- Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study
- Association study of LIN28B in girls with precocious puberty
- Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy
- Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels
- Evaluation of endocrine and metabolic dysfunctions after hematopoietic stem cell transplantation in children: a study from Turkey
- Case Reports
- Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH
- Deoxyguanosine kinase deficiency: a report of four patients
- Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis
Articles in the same Issue
- Frontmatter
- Review
- Multiple effects of probiotics on different types of diabetes: a systematic review and meta-analysis of randomized, placebo-controlled trials
- Original Articles
- Oral administration of diluted nasal desmopressin in managing neonatal central diabetes insipidus
- Does body fat percentage predict post-exercise heart rate response in non-obese children and adolescents?
- The relationship between insulin resistance and endothelial dysfunction in obese adolescents
- Neck circumference is similarly predicting for impairment of glucose tolerance as classic anthropometric parameters among healthy and obese children and adolescents
- Reduced bone mineral density in Chinese children with phenylketonuria
- Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study
- Association study of LIN28B in girls with precocious puberty
- Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy
- Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels
- Evaluation of endocrine and metabolic dysfunctions after hematopoietic stem cell transplantation in children: a study from Turkey
- Case Reports
- Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH
- Deoxyguanosine kinase deficiency: a report of four patients
- Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis
