Makindo Medical Notes

🌸 Hypogonadism in Females

Hypogonadism in females refers to insufficient ovarian production of estrogen and progesterone. It can arise from primary ovarian failure or from secondary dysfunction of the hypothalamic–pituitary–ovarian axis. Understanding whether the defect is central or gonadal is key to both diagnosis and management.

🧬 Causes

• Primary Ovarian Failure: Gonadal pathology
  • Ovariectomy: Immediate loss of ovarian hormones after surgery.
  • Autoimmune Oophoritis: Autoimmune destruction of ovarian tissue.
  • Chemotherapy or Radiotherapy: Cytotoxic damage to follicles.
  • Turner’s Syndrome (45,X): Streak gonads with ovarian insufficiency.
  • Pure Ovarian Dysgenesis: Genetic defects causing non-functional ovaries.
  • Steroidogenic Enzyme Defects: e.g. 17β-hydroxylase deficiency, impairing estrogen synthesis.
  • Swyer Syndrome: 46,XY gonadal dysgenesis with non-functional “streak” gonads.
• Secondary Hypogonadism: Hypothalamic–pituitary dysfunction
  • Congenital: Kallmann syndrome (GnRH deficiency ± anosmia).
  • Functional: Stress, undernutrition, or excessive exercise (hypothalamic amenorrhoea).
  • Pituitary disease: Tumours, surgery, or irradiation.
  • Hyperprolactinaemia: Prolactin suppresses GnRH → low LH/FSH.
  • Chronic systemic illness: e.g. coeliac disease, poorly controlled diabetes.

🔍 Clinical Features

• Delayed puberty (no breast development, primary amenorrhoea).
• Oligomenorrhoea or secondary amenorrhoea.
• Infertility (anovulation).
• Low bone density / osteoporosis (due to prolonged estrogen deficiency).
• Vasomotor symptoms: hot flushes, night sweats.
• Genitourinary: vaginal dryness, dyspareunia, reduced libido.

🧪 Investigations

• Blood tests:
  • FSH, LH, estradiol (↑FSH/LH with ovarian failure; ↓/inappropriately normal in secondary causes).
  • Prolactin (exclude hyperprolactinaemia).
  • Thyroid function tests (thyroid disease may mimic hypogonadism).
  • Karyotype (Turner’s, Swyer, other chromosomal abnormalities).
• Imaging:
  • Pelvic ultrasound – ovarian size, uterus development.
  • MRI brain/pituitary – for suspected central lesions.

💊 Management

• Hormone Replacement Therapy (HRT):
  • Estrogen for symptom control, bone protection, and induction of puberty (if adolescent).
  • Add cyclical progesterone if uterus intact → prevent endometrial hyperplasia.
• Fertility treatment:
  • Ovulation induction with gonadotropins or IVF (depending on ovarian reserve).
  • Donor oocytes if ovarian reserve exhausted (e.g. Turner’s, post-chemo).
• Address underlying causes:
  • Treat endocrine disorders (thyroid, hyperprolactinaemia).
  • Optimise nutrition and reduce stress/excessive exercise.
• Bone health:
  • Ensure calcium + vitamin D intake.
  • DEXA scanning to monitor bone mineral density.
  • Bisphosphonates only if established osteoporosis (specialist decision).

📚 References

• NCBI – Hypogonadism in Females
• UpToDate – Hypogonadism in Women
• NICE CKS: Amenorrhoea