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Reproductive
Mullerian Agenesis/Aplasia
Congenital Absence of Uterus & Upper Vagina
Primary Amenorrhea
Nml. 2/2 Sex characteristics, Karyotype, Estrogen, Testosterone
Renal U/S for GUT Anomalies e.g. U/L Renal Agenesis
Tx: Surgery
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
Double Y Syndrome (47, XYY)
Paternal Nondisjunction (Anaphase II)
Phenotypically Male
Tall Stature
Severe Acne
Nml. Fertility
Placental aromatase deficiency
Placental aromatase deficiency
Inability to synthesize estrogens from androgens
Masculinization of female (46,XX) infants
Ambiguous genitalia
Increased serum testosterone and androstenedione
Can present with maternal virilization during pregnancy (fetal androgens cross the placenta)
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
Leuprolide
Mechanism
GnRH Agonist (Pulsatile Use)
GnRH Antagonist (Continuous Use)
Upregulates FSH And LH
Downregulates FSH And LH
Indications Pulsatile
Infertility
Indications Continuous
Prostate Cancer
Precocious Puberty
Uterine Fibroids
Endometriosis
Side Effects
Anti-androgenic Effects
2 mins
Estrogen Drugs
Estrogens
Estrogens: Estradiol, DES, Mestranol
Estrogen Receptor Agonists
Hypogonadism or Ovarian Failure
Postmenopausal Women
Androgen-Dependent Prostate Cancer
Side Effects
Thromboembolism
Breast Cancer
Increased risk of endometrial cancer
DES: Clear Cell Adenocarcinoma of Vagina with exposure in utero
Antiproliferative effect in Uterus, Blocks Ovulation (Blocks LH)
Emergency Contraception (5 Days)
Fx: Headache, Early Menstruation, Nausea
Mifepristone (RU 486)
Prosgesterone receptor antagonist
Induce myometrium contraction
Medical Abortion
Nausea and Vomiting
Diarrhea
Abdominal pain
Bacterial infections
Excessive bleeding
Contraception
Indications
Preventing Unplanned Pregnancy
Barrier Methods
Spermicides
Diaphragm
Cervical Cap
Contraceptive Sponge
Male Condom
Hormonal Method
Oral Contraceptive
Intrauterine Device (IUD)
Injectable Progestins
2 mins
Combination Oral Contraceptives
Monophasic
Biphasic
Triphasic
Smoking
MOA
Danazol
Inhibit anterior pituitary
Decrease FSH and LH
Endometrial atrophy
Endometriosis
Fibrocystic breast disease
Weight gain
Acne and hair growth
Thromboembolism
Hepatic effects
Intracranial hypertension
Testosterone
Testosterone Aqueous
Testosterone Cypionate
Testosterone Gel
Fluoxymesterone
Therapuetic Use
Hypogonadism
Anabolic effects
Growth
Adverse effects
Females
Males
Adverse Effects
Androgen Antagonists
Finasteride
5-Alpha Reductase Type II Inhibitor
indicated for BPH, Alopecia
Flutamide
Non-steroidal Competitive AR Antagonist
indicated for Metastatic Prostate CA
give with Leuprolide
SFx: Teratogen
Ketoconazole
Spironolactone
Minoxidil (Loniten, Rogaine)
Mechanism
Vasodilates Arterioles
Indications
Severe Hypertension
Baldness
Side Effects
Reflex Tachycardia
Blood Volume Expansion
Hypertrichosis
Pericardial Effusion
Rash
Considerations
Give with Beta Blocker and Diuretic
2 mins
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