Turner's syndrome is a cause of primary amenorrhea

Turner’s syndrome is a cause of primary amenorrhea

Turner syndrome is a significant cause of primary amenorrhea. Turner syndrome is a chromosomal disorder affecting females, characterized by the complete or partial absence of one of the two X chromosomes (45,X karyotype or variants). Here’s how Turner syndrome leads to primary amenorrhea:

Turner Syndrome and Primary Amenorrhea

Characteristics of Turner Syndrome

  • Genetics: Typically involves a missing or structurally altered X chromosome (45,X or mosaic patterns like 45,X/46,XX).
  • Physical Features: Short stature, webbed neck, low-set ears, and broad chest with widely spaced nipples. Other possible features include lymphedema, cardiovascular anomalies, and renal abnormalities.

Ovarian Dysgenesis

  • Streak Gonads: Individuals with Turner syndrome have underdeveloped (streak) gonads, which are non-functional and fail to produce sufficient levels of estrogen and progesterone.
  • Follicle Depletion: There is a high rate of oocyte apoptosis, leading to early depletion of ovarian follicles.

Hormonal Profile

  • Low Estrogen: Due to the absence or dysfunction of the ovaries, estrogen levels are low.
  • Elevated Gonadotropins: In response to low estrogen, the levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) are elevated due to the lack of negative feedback.

Impact on Menstruation

  • Lack of Menarche: Without functional ovaries and adequate estrogen production, individuals with Turner syndrome do not experience menarche (the onset of the first menstrual period).
  • Primary Amenorrhea: The absence of spontaneous menstruation is termed primary amenorrhea, which is a hallmark of Turner syndrome.

Diagnosis

  • Karyotyping: Chromosomal analysis confirms the diagnosis by identifying the 45,X karyotype or mosaic patterns.
  • Clinical Features: Recognition of characteristic physical features and growth patterns often leads to genetic testing.
  • Hormonal Assays: Elevated FSH and LH with low estrogen levels support the diagnosis.

Management

  • Hormone Replacement Therapy (HRT): To induce secondary sexual characteristics and prevent osteoporosis, estrogen and progesterone are administered.
  • Growth Hormone Therapy: Often started in childhood to promote growth and increase final adult height.
  • Monitoring and Treatment of Associated Conditions: Regular cardiovascular, renal, and metabolic assessments are crucial due to the higher risk of associated anomalies.

Summary

Turner syndrome is a common cause of primary amenorrhea due to the absence or severe dysfunction of ovarian tissue, leading to low estrogen production and failure to initiate menstruation. Diagnosis involves chromosomal analysis, and management includes hormone replacement and addressing associated health issues.