166 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
to an enlarged clitoris ... difficulties • Enlarged clitoris ... pathophysiology #genetics
Vagina and Clitoris Anatomy

By @rev.med

#Vagina #Clitoris #Anatomy #urology #gynecology
Vagina and Clitoris ... rev.med #Vagina #Clitoris
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Ovary
Fallopian tube
Uterus
Labia minora
Vestibule
Vagina
Glans and crus of clitoris
Vestibular bulb
Greater vestibular (#Bartholin) gland
Right ureter
Ovarian suspensory
ligament
Right #fallopian tube
Right #ovary
Round
Glans and crus of clitoris ... Urinary #bladder #Clitoris
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics