Medical Archive

C600 Development and Function of the Gonads

Hypogonadism

1? ??? ???	GnRH ? FSH, LH ?, testosterone ?,  hCG??? ?? ??.
Kleinefelter SD	47, XXY (80%), ?? ??? ?? ?? Testosterone, inhibin B ?
Turner	45, X (m/c), Y ? ? gonadoblastoma ? ?? ??, ???, ??? ??, ??? ?? ???? GH, ?? Estrogen
Noonan SD	?? ??, PTPN11 gene ?? ???, ???, ???
2? ??? ???	GnRH ? FSH, LH ?, testosterone ? hCG(LH) or hMG(FSH+LH), GnRH pulsatile Tx
Kallmann SD	???? ???(LHRH?), ?? ??? ?? ????? ??? ???? ?? ???? ??, anosmia
PCOS

C601 Hypofunction of the Testes

C601.1 Hypergonadotropic Hypogonadism in the Male (Primary Hypogonadism)

Leydig cell hyperplasia

Etiology

Clinical manifestations

Diagnosis

Noonan syndrome

Klinefelter syndrome

• 

• 

C601.2 Hypogonadotropic Hypogonadism in the Male (Secondary Hypogonadism)

C602 Pseudoprecocity Resulting From Tumors of the Testes

C603 Gynecomastia

C604 Hypofunction of the Ovaries

C605 Pseudoprecocity Resulting From Lesions of the Ovary

C606 Disorders of Sex Development

Sex differentiation

Diagnostic Approach to the Patient With Atypical or Ambiguous Genitalia

Hermaphroditism (???) -> DSD? ??? ????.

C606.1 46,XX DSD

Congenital Adrenal Hyperplasia

• 21-hydroxylase deficiency

Aromatase Deficiency

Cortisol Resistance Due to Glucocorticoid Receptor Gene Mutation

Virilizing Maternal Tumors

• Sertoli-Leydig cell tumors

Exposure to Androgenic Drugs by Women During Pregnancy

C606.2 46,XY DSD

Defects in Testicular Differentiation

Defiency of Testicular Hormone Production

Defects in Androgen Action

• Dihydrotestosterone Deficiency
  • Pathogenesis
    • 5-?-reductase deficiency
    • Impaired testosterone to DHT conversion
    • Impaired virilization during embryogenesis
    • Normal male testosterone & estrogen levels.
  • Clinical features
    • Male internal, female external genitalia
    • No breast development
      • Testosterone inhibits breast tissue proliferation
    • Virilization at puberty
      • d/t ? testosterone
      • Clitoromegaly, ?muscle mass, male-pattern hair development, nodulocystic acne
• Androgen Insensitivity Syndromes
  • Pathogenesis
  • Clinical features
    • Breast development at pubery

C606.3 Ovotesticular DSD

Diagnosis and Management of Disorders of Sex Development