Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling
-
Elif Ozsu
and
Allison Bahm
Abstract
Background:
Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair.
Case presentation:
A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes. She also had a tall stature. Her laboratory assessment showed low cortisol and ACTH concentrations, normal renin and poor response to ACTH stimulation. Genetic testing revealed a novel biallelic mutation in the POMC gene. Her sibling who had severe obesity and central adrenal insufficiency was found to be a carrier of the same mutation. Both siblings had alabaster-colored skin and brown hair.
Conclusions:
POMC deficiency results in significant morbidity due to obesity, and it is also a potentially life threatening disease because of adrenal insufficiency. Therefore any suggestive symptom or sign of POMC deficiency warrants detailed investigations.
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 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.
References
1. Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, et al. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes 2006;55:2549–53.10.2337/db06-0214Search in Google Scholar PubMed
2. Cirillo G, Marini R, Ito S, Wakamatsu K, Scianguetta S, et al. Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis. Br J Dermatol 2012;167:1393–5.10.1111/j.1365-2133.2012.11060.xSearch in Google Scholar PubMed
3. Aslan IR, Ranadive SA, Valle I, Kollipara S, Noble JA, et al. The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus. Int J Obes (Lond) 2014;38:148–51.10.1038/ijo.2013.53Search in Google Scholar PubMed PubMed Central
4. Coppari R, Bjorbaek C. Leptin revisited: its mechanism of action and potential for treating diabetes. Nat Rev Drug Discov 2012;11:692–708.10.1038/nrd3757Search in Google Scholar PubMed PubMed Central
5. Anisimova AS, Rubtsov PM, Akulich KA, Dmitriev SE, Flolova E, et al. Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutaion. J. Clin Endocrinol Metab 2017;102:359–62.Search in Google Scholar
©2017 Walter de Gruyter GmbH, Berlin/Boston
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- Frontmatter
- Review
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- Original Articles
- Relation of insulin resistance to neurocognitive function and electroencephalography in obese children
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- Type 3 renal tubular acidosis associated with growth hormone deficiency
- Serum α-klotho levels are not informative for the evaluation of growth hormone secretion in short children
- Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test
- Pediatric differentiated thyroid carcinoma: trends in practice and outcomes over 40 years at a single tertiary care institution
- Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome
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- Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling
