Makindo Medical Notes

Hypogonadism in Females

Hypogonadism in females is a condition characterized by insufficient production of sex hormones, primarily estrogen and progesterone, by the ovaries. It can result from primary ovarian failure or secondary causes affecting the hypothalamic-pituitary-ovarian axis.

Causes

• Primary Ovarian Failure:
  • Ovariectomy: Surgical removal of one or both ovaries, leading to immediate loss of ovarian hormone production.
  • Autoimmune Oophoritis: Autoimmune destruction of ovarian tissue, resulting in impaired hormone production.
  • Chemotherapy or Radiation Therapy: Damage to ovarian follicles due to cytotoxic agents or radiation exposure.
  • Turner's Syndrome: A chromosomal disorder (45,X) leading to streak gonads and ovarian insufficiency.
  • Pure Ovarian Dysgenesis: Genetic defects causing underdeveloped or non-functional ovaries.
  • Steroid Biosynthetic Deficiency: Disorders such as 17β-hydroxylase deficiency, disrupting steroidogenesis and ovarian function.
  • Swyer Syndrome: A disorder in which individuals with a 46,XY karyotype have gonadal dysgenesis and non-functional gonads.
• Secondary Hypogonadism:
  • Hypothalamic or Pituitary Dysfunction: Conditions such as Kallmann syndrome, functional hypothalamic amenorrhea, or pituitary tumors.
  • Chronic Systemic Illness: Chronic diseases like diabetes or celiac disease that disrupt normal endocrine function.
  • Hyperprolactinemia: Excess prolactin secretion suppresses gonadotropin-releasing hormone (GnRH).

Clinical Features

• Delayed or absent puberty in adolescents (e.g., lack of breast development).
• Oligomenorrhea or amenorrhea in adults.
• Infertility due to anovulation.
• Low bone mineral density or osteoporosis from prolonged estrogen deficiency.
• Hot flashes, vaginal dryness, and reduced libido in adult-onset hypogonadism.

Investigations

• Blood Tests:
  • Hormones: Serum FSH, LH, estradiol, and prolactin levels.
  • Karyotyping: To identify chromosomal abnormalities like Turner's or Swyer syndrome.
• Imaging:
  • Pelvic Ultrasound: Assess ovarian size and morphology.
  • Brain MRI: Evaluate the hypothalamus and pituitary for secondary causes.

Management

• Hormone Replacement Therapy (HRT):
  • Estrogen therapy to address symptoms of estrogen deficiency, support bone health, and induce secondary sexual characteristics.
  • Progesterone is added in women with an intact uterus to prevent endometrial hyperplasia.
• Fertility Treatment:
  • Gonadotropin therapy or assisted reproductive techniques for women seeking pregnancy.
• Addressing Underlying Causes:
  • Treat autoimmune conditions or endocrine disorders contributing to hypogonadism.
• Bone Health:
  • Calcium and vitamin D supplementation.
  • Bisphosphonates for osteoporosis, if indicated.

References

• Hypogonadism in Females - NCBI
• UpToDate: Hypogonadism in Women