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Endocrine Signaling01:45

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Endocrine cells produce hormones to communicate with remote target cells found in other organs. The hormone reaches these distant areas using the circulatory system. This exposes the whole organism to the hormone but only those cells expressing hormone receptors or target cells are affected. Thus, endocrine signaling induces slow responses from its target cells but these effects also last longer.
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Hormones regulate a significant portion of digestion through activation of the neuroendocrine system. The neuroendocrine system of digestion contains many different hormones all with multiple functions that are both, directly and indirectly, involved in digestion.
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Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
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Enteroendocrine Dysfunction in Two Saudi Sisters.

Amna Basheer M Ahmed1, Badr M Rasheed Alsaleem1

  • 1Department of Pediatric Gastroenterology/Hepatology, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

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|April 1, 2021
PubMed
Summary

Proprotein convertase (PC) deficiency, a rare genetic disorder, causes severe malabsorptive diarrhea and obesity. Early diagnosis via whole-exome sequencing is crucial for managing this condition, which presents with varied symptoms.

Keywords:
Congenital enteropathyIntractable diarrheaMalabsorptionProprotein convertase 1/3

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Area of Science:

  • Genetics and Molecular Biology
  • Gastroenterology and Endocrinology

Background:

  • Proprotein convertase (PC) deficiency, caused by PCSK1 mutations, is a rare autosomal recessive disorder.
  • It manifests as severe early-onset malabsorptive diarrhea, obesity, and systemic endocrinopathies.

Observation:

  • Two sisters with congenital osmotic diarrhea and PC1/3 deficiency exhibited chronic enteropathy with hypernatremia.
  • Clinical presentation showed different expressivity between the siblings.

Findings:

  • PC1/3 deficiency leads to malabsorptive diarrhea and enteroendocrine dysfunction.
  • Symptoms can mimic glucose-galactose malabsorption, complicating diagnosis.

Implications:

  • The clinical paucity and heterogeneity of congenital enteropathies underscore the need for advanced diagnostic tools.
  • Whole-exome sequencing is vital for early diagnosis and effective management of PC1/3 deficiency.
  • Understanding PC1/3 deficiency aids in managing rare genetic enteropathies and related endocrine disorders.