Case of infantile obesity

Congenital leptin receptor deficiency is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin receptor function. Due to its subtle signs and symptoms early diagnosis of this becomes a challenge. We report a case of a 7-month-old male child who presented with the complaints of excessive weight gain on exclusive breast feeding with no dysmorphism or developmental delay. Whole exome sequencing helped in diagnosis of leptin receptor deficiency. Specific investigations are needed for diagnosis of genetic forms of obesity. Specific diagnosis helps to prognosticate and counsel parents and help physicians to improve their care in patients with severe early onset obesity.

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Publication Details

Journal
International Journal of Contemporary Pediatrics
Published
2025-02-24
DOI
https://doi.org/10.18203/2349-3291.ijcp20250417
Primary Topic
Regulation of Appetite and Obesity
Type
article
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article

Case of infantile obesity

Rama Kaja, Ansar Hussain, Surendranath, Smruthi Theja Godala et al.
International Journal of Contemporary Pediatrics
Regulation of Appetite and Obesity
article

Case of infantile obesity

Rama Kaja, Ansar Hussain, Surendranath, Smruthi Theja Godala, Sravya Chakiri
article en

Abstract

Congenital leptin receptor deficiency is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin receptor function. Due to its subtle signs and symptoms early diagnosis of this becomes a challenge. We report a case of a 7-month-old male child who presented with the complaints of excessive weight gain on exclusive breast feeding with no dysmorphism or developmental delay. Whole exome sequencing helped in diagnosis of leptin receptor deficiency. Specific investigations are needed for diagnosis of genetic forms of obesity. Specific diagnosis helps to prognosticate and counsel parents and help physicians to improve their care in patients with severe early onset obesity.

International Journal of Contemporary PediatricsVol. 12(3)
CARE Hospitals (IN)
Openalex Percentile: Top 96%
Regulation of Appetite and Obesity
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