This is a flowchart on primary amenorrhea, covering the etiology, pathophysiology, and manifestations.

ADDITIONAL TAGS:
Turner syndrome (45,XO)
Ovarian dysgensis (46,XX)
Risk factors / SDOH
Cell / tissue damage
Structural factors
Primary amenorrhea
Medicine / iatrogenic
Infectious / microbial
Biochem / metabolic
Immunology / inflammation
Signs / symptoms
Tests / imaging / labs
Embryology / development
Genetic / hereditary
Neoplastic / cancer
Pathophysiology
Etiology
Manifestations
Primary amenorrhea: absence of menarche
↓ release of GnRH → ↓ pituitary release of FSH and LH
Ovaries fail to produce estrogen
and progesterone
Hypogonadotropic hypogonadism
Hypergonadotropic hypogonadism
↑ GnRH
↑ FSH, LH
↓ estrogen, progesterone
↓ GnRH
↓/nl FSH, LH
↓ estrogen, progesterone
Kallmann syndrome: Defective migration of GnRHreleasing neurons from olfactory bulbs to hypothalamic preoptic nuclei → ↓ GnRH secretion and underdevelopment of the olfactory bulbs
Anosmia / hyposmia
Functional hypothalamic amenorrhea: ↓ leptin and/or ↑ cortisol → ↓ pulsatile release of GnRH
Competitive sports
Stress
Eating disorders
CNS tumors (e.g., craniopharyngioma)
PraderWilli syndrome: loss of genes on chromosome 15
Muscular hypotonia, poor feeding
Hyperphagia → obesity
Short stature, scoliosis
Developmental delays
Gonadal dysgenesis
Swyer syndrome (46,XY)
Streak ovaries
Short stature
Webbed neck
Widespaced nipples
Anatomic anomalies → outflow tract obstruction
Vaginal atresia
Imperforate hymen
Müllerian agenesis
Transverse vaginal septum
Normal GnRH, FSH, LH, estrogen, progesterone
Receptor / enzyme abnormalities
5alphareductase deficiency (“penis at 12”)
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia (CAH): 17alphahydroxylase deficiency
By Artoria2e5 Own work, CC BY 3.0, https://commons.wikimedia.org/w/index...
Structural abnormalities