Placental Aromatase Deficiency
- Decreased Estrogen
- Increased Androgens
- Ambiguous Genitalia
- Primary Amenorrhea
- Masculinization
- Tall Stature
- Osteoporosis
- Hormone Replacement Therapy
- Calcium and Vitamin D
- Surgery
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
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
Kallman Syndrome
- Mutation in KAL-1 or FGFR-1 Gene
- Failure of GnRH Secreting Neurons
- Delayed Puberty
- Anosmia
- Hypogonadism
- Infertility