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Medicine (MD/DO)
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USMLE Step 1
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Pathology
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Disorders of Sexual Development

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Pathology | Medicine (MD/DO) School Study Aid

Disorders of Sexual Development
6 Picmonics to Learn | 19 mins
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)
picmonic thumbnail
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
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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
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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
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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
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2 mins
Kallman Syndrome
Mutation in KAL-1 or FGFR-1 Gene
Failure of GnRH Secreting Neurons
Delayed Puberty
Anosmia
Hypogonadism
Infertility
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2 mins

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