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Pathology | Medicine (MD/DO) School Study Aid
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
Placental Aromatase Deficiency
- Characteristics
- Decreased Estrogen
- Increased Androgens
- Presentation
- Ambiguous Genitalia
- Primary Amenorrhea
- Masculinization
- Tall Stature
- Osteoporosis
- Management
- Hormone Replacement Therapy
- Calcium and Vitamin D
- Surgery
2 mins
Androgen Insensitivity (Complete)
- Defect in Androgen Receptor
- Phenotypically Female
- (46, XY)
- Female External Genitalia
- Rudimentary Vagina
- Scant Sexual Hair
- Testes Often in Labia Majora
- Testes Surgically Removed to Prevent Malignancy
- Increased Estrogen, Testosterone, and LH
- Absent Uterus and Fallopian Tubes
3 mins
5 Alpha Reductase Deficiency
- Autosomal Recessive
- Inability to Convert Testosterone to DHT
- Normal Internal Genitalia
- Ambiguous External Genitalia until Puberty
- Masculinization During Puberty with Growth of External Genitalia
- LH can be Increased
- Normal Estrogen, LH, and Testosterone levels
2 mins
Kallman Syndrome
- Mutation in KAL-1 or FGFR-1 Gene
- Failure of GnRH Secreting Neurons
- Delayed Puberty
- Anosmia
- Hypogonadism
- Infertility
2 mins
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