179 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Causes of Male Infertility ... High FSH/LH: • Genetic ... torsion #Male #Infertility
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... pathophysiology #genetics
Causes of Female and Male Infertility - Differential Diagnosis Algorithm
Causes of Female Infertility:
 • Uterus -
Female and Male Infertility ... Causes of Female Infertility ... Causes of Male Infertility ... FSH/LH #Male #Infertility
Male infertility therapy. I was taught much of this information from Phil Boyle, MD @ Neofertility.
Male infertility ... #infertility #maleinfertility
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Thyroid Disorders and Menstrual Cycle Function

Hypothyroidism
 • Polymenorrhea (increased menstrual bleeding) is more common
 • Oligomenorrhea
• Decreased fertility ... • Decreased fertility
Options for Fertility Preservation. #Management #Obgyn #PrimaryCare #FertilityPreservation #Overview #Options #NEJM
Options for Fertility
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic