Primary amenorrhea (mechanism of disease)

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 GnRH-releasing 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)
Prader-Willi 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
Wide-spaced nipples
Anatomic anomalies → outflow tract obstruction
Vaginal atresia
Imperforate hymen
Müllerian agenesis
Transverse vaginal septum
Normal GnRH, FSH, LH, estrogen, progesterone
Receptor / enzyme abnormalities
5-alpha-reductase deficiency (“penis at 12”)
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia (CAH): 17-alpha-hydroxylase deficiency
By Artoria2e5 - Own work, CC BY 3.0, commons.wikime...
Structural abnormalities

[@drelias5436]

This is fucking awesome and I love the color coding. What you're doing is really appreciated by a 3rd year.

[@yasmeenrashid7654]

Excellent sir

[@hillsideonly]

Great explanation.

[@szaihilos]

Love this!!! Could you please do a video on secondary amenorrhoea as well?

[@ernestonavarro8838]

Amazing video, you could do an update that touches on hypothyroidism.

[@paniniewill1757]

Excellent ❤

[@bensmississa7639]

Thank you so much for the video 🙏🏻 Could you give me the name of the Mindmap application or website,please ?

[@ahmedfalah8611]

❤

[@ayaaya2007]

Excellent

[@dr-deva]

Waaawo i hope explane secondry ameno

[@yasmeenrashid7654]

Thanks sir

[@mariaraisa7404]

Nice ❤❤❤❤❤❤