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Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Cushing Syndrome I: Introduction01:26

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Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
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Cushing Syndrome II: Pathophysiology

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Cellular Adaptation III: Hyperplasia

Hyperplasia is an increase in the number of cells in a tissue or organ due to enhanced cell division. It is an adaptive, controlled response to stimuli such as injury, hormones, or stress, involving mitosis to produce genetically identical cells and support tissue repair and regeneration.Tissue CapacityCertain tissues, including the epidermis, intestinal epithelium, bone marrow, and fibroblasts, have a high potential for hyperplasia. Others, such as bone, cartilage, and smooth muscle, show...
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Congenital adrenal hyperplasia.

H Salman1, A Abanamy, B Ghassan

  • 1Suleimania Children's Hospital, Riyadh, Saudi Arabia.

Annals of Saudi Medicine
|January 1, 1991
PubMed
Summary

Congenital adrenal hyperplasia (CAH) is a significant concern in Saudi Arabia. Early diagnosis and intervention are crucial to prevent severe health issues and ambiguous genitalia in affected infants.

Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Congenital adrenal hyperplasia (CAH) incidence and carrier rates in Saudi Arabia are largely unknown.
  • High rates are suspected due to prevalent consanguinity.
  • This study addresses this knowledge gap.

Purpose of the Study:

  • To report the incidence and clinical presentation of CAH in Saudi Arabia.
  • To highlight the challenges in diagnosis and management.
  • To emphasize the need for early screening and intervention.

Main Methods:

  • Retrospective review of 25 CAH cases over three years.
  • Analysis of clinical presentations, including degree of virilization and age of salt-losing crisis onset.
  • Evaluation of family history of neonatal deaths.

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Main Results:

  • 25 CAH cases (10 boys, 15 girls) diagnosed, mostly 21-hydroxylase deficiency.
  • Significant virilization in girls (7/15) leading to sex identity errors.
  • Salt-losing crises presented early (9 days females, 25 days males), common in 80% of cases.
  • High family history of neonatal deaths (12%).

Conclusions:

  • CAH is prevalent in Saudi Arabia, with significant virilization and early salt-losing crises.
  • Neonatal screening and intrauterine diagnosis are essential.
  • Early hormonal intervention can prevent ambiguous genitalia and reduce psychological burden.