Spectrum of Growth Hormone Disorders in Children: A Case Series of 5 Cases
Published: October 1, 2023 | DOI: https://doi.org/10.7860/JCDR/2023/66866.18513
Anshuman, Amit Kumar, Rakesh Kumar, Rizwan Ahmar, Jayant Prakash
1. Senior Resident, Department of Paediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
2. Assistant Professor, Department of Paediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
3. Additional Professor, Department of Paediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
4. Additional Professor, Department of Paediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
5. Professor, Department of Paediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
Correspondence
Amit Kumar,
Room No-201, Paediatrics Office, Indira Gandhi Institute of Medical Sciences, Patna-800014, Bihar, India.
E-mail: amitpmch@rediffmail.com
Growth Hormone Deficiency (GHD) is one of the most important treatable endocrine causes of short stature. A problem anywhere in the Growth Hormone (GH) - Insulin-Like Growth Factor-1 (IGF-1) axis can lead to short stature. Childhood GH deficiency can be congenital, acquired, or idiopathic. Hereby, the authors present a case series consisting of five cases of short stature, aimed to provide an overview of the spectrum of GH-related disorders. All five patients presented to the Paediatric Endocrinology Outpatient Department of a tertiary care Institute with complaints of not gaining height. The patients in present case series had significant short stature (Z score for height <-3 SD (Standard Deviation) in each case). These patients were suspected of having GH deficiency based on clinical presentation and investigations. After a proper diagnostic work-up and GH stimulation tests, cases 1 to 4 were found to have GH deficiency. The 5th case was suspected of having Laron Syndrome based on high GH levels and low IGF-1. There were subtle differences in the spectrum of GH deficiency. The 1st case had Multiple Pituitary Hormone Deficiency (MPHD). Cases 2 to 4 had Isolated Growth Hormone Deficiency (IGHD). Case 2 had findings of pituitary stalk interruption on brain imaging. We found a genetic association in the 3rd case, while the 4th case had almost normal brain imaging. Cases 1 to 4 received GH therapy, and all showed appreciable height gain. These subtle differences can sometimes make the diagnosis difficult, and often a different approach to treatment is required.
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