17 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms/Complications ... delayed puberty -> Infertility ... Obesity -> Type 2 diabetes ... #genetics #pathophysiology
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus ... vs Syndrome of ... Excess ADH #Diabetes ... Comparison #Table #Pathophysiology ... Symptoms #Diagnosis #Endocrinology
Pathophysiology of Diabetic Ketoacidosis (DKA) and Hyperglycemic Hyperosmolar Syndrome (HHS)
Absolute Insulin deficit:
 - Type I DM:
Pathophysiology ... Hyperglycemic Hyperosmolar Syndrome ... #dka #hhs #pathophysiology ... #comparison #endocrinology ... #diabetes #diabetic
Wolfram syndrome (WS) is a form of monogenic diabetes that typically presents with diabetes mellitus in
Wolfram syndrome ... form of monogenic diabetes ... presents with diabetes ... hypogonadism, infertility ... WOLFRAMSYNDROME #SUMMARY #ENDOCRINOLOGY
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
co-morbidities (e.g. diabetes ... >41 weeks) • Genetic ... Sotos syndrome, ... , Weaver's syndrome ... ) Fetal Complications
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
Pathogenesis and Complications ... irritable bowel syndrome ... Diabetes) • Altered ... Incontinence #geriatrics #pathophysiology
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Diabetic Ketoacidosis ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology ... #diabetes
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... severe clinical complications ... Poorly controlled diabetes ... • Nephrotic syndrome ... Differential #Diagnosis #Pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology