II. Definitions
- Hypergonadotropic Hypogonadism
- Defective development of ovaries or Testes
- Associated with excess Pituitary Gonadotropin secretion
- Results in delayed Sexual Development and Growth Delay
III. Pathophysiology
- Gonads deficient in sex Hormone production
- Testes produce less Testosterone
- Ovaries produce less estogen
-
Hypothalamus and pituitary responds
- Increased gonadotropin release (FSH, LH)
IV. Causes
- Variants of Ovarian and Testicular Dysgenesis
- Male: Klinefelter Syndrome (XXY)
- Female: Turner's Syndrome (XO)
- Gonadal Toxins (Chemotherapy/Radiation)
- Cytotoxic drugs (e.g. Chemotherapy)
- Glucocorticoids
- Enzyme defects
- Female: 17 alpha hydroxylase deficiency
- Male: 17 ketosteroid reductase deficiency
- Androgen Insensitivity (Testicular feminization)
- Miscellaneous
- Mumps
- Pelvic radiation
- Gonadal failure (in adults)
V. Labs
- Follicle Stimulating Hormone (FSH) Increased
- Luteinizing Hormone (LH) Increased
- Other lab testing in Delayed Menarche (Primary Amenorrhea)
- Primary Ovarian Insufficiency labs
- FMR1 Gene Premutation (fragile-X gene)
- 21-Hydroxylase autoantibodies (Autoimmune Adrenalitis and Addison's Disease)
- Premature Ovarian Insufficiency secondary to Autoimmune Polyendocrine Syndrome
- Karyotype
- Turner Syndrome
- Monosomy X (45,X)
- Mosaicism (e.g. 45,X / 46,XX)
- Y Chromatin (Y Chromosome)
- Swyer syndrome (46,XY gonadal dysgenesis)
- Mosaic Turner Syndrome
- Turner Syndrome
- Primary Ovarian Insufficiency labs
VI. Management: Delayed Menarche
- See Amenorrhea
- See Primary Amenorrhea
- See Secondary Amenorrhea