1. Primary Amenorrhea

2. Primary vs Secondary Amenorrhea
Primary amenorrhea: menstruation never occurred
No menses by 15 and normal 2nd sex characteristics
No menses by 13 and absence of 2nd sex characteristics
Secondary amenorrhea: cessation of menstruation
No menses for 3 months and previously normal cycles
No menses for 6 months and previously abnormal cycles
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6. Outflow Obstruction Imperforate hymen Path: hymen fails to canalize
Pt: cyclic pelvic pain, normal pubic hair / breast development, amenorrhea
Dx: bulging blue membrane, hematocolpos
Tx: surgery
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7. Outflow Obstruction Transverse vaginal septum
Path: fusion failure between upper mullerian duct and lower urogenital sinus
Pt: cyclic pelvic pain, normal pubic hair/ breast development, amenorrhea
Dx: shortened vagina, hymenal ring below septum, palpable hematocolpos, U/S or MRI
Tx: surgery
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8. Mullerian Agenesis vs Androgen Insensitivity
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9. Mullerian Agenesis Mayer-Rokitansky-Küster-Hauser syndrome
Path: idiopathic mullerian agenesis or hypoplasia → partial or complete absence of upper vagina, cervix, and uterus
Pt: normal pubic hair, breasts, ♀ external genitalia, amenorrhea, dyspareunia
Dx: shortened vagina, U/S to confirm – uterus and + ovaries, XX karyotype, normal FSH/LH/testosterone
Tx: vaginal dilation, (surgery if dilation fails), U/S for kidneys and spinal radiographs
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10. Androgen Insensitivity Syndrome
Testicular feminization syndrome
Path: defective androgen receptor
Pt: normal breast development, ♀ external genitalia, primary amenorrhea, NO / minimal axillary or pubic hair, NO uterus / ovaries
Dx: XY karyotype, ↑ male level of testosterone, normal FSH/LH
Tx: orchidectomy in late teens / 20s → HRT, vaginal dilation
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11. Turner Syndrome Path: 45X or mosaic 45X/46XX → streak gonads
Pt: short stature, webbed neck, shield chest w/ wide spaced nipples, cardiac defects (bicuspid AV, coarctation of aorta), horse-shoe kidney, amenorrhea, ↑ risk for osteoporosis
Dx: XO karyotype, buccal smear, ↑ FSH/LH, US showing streak ovaries
Tx: GH replacement at 2-5, estrogen / progesterone 12-50, echocardiograph + 4-extremity BP
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12. Hypogonadotropic hypogonadism
Kallmann’s syndrome (aka Congenital GnRH deficiency)
Path: genetic mutation → failure of GnRH neuron migration from olfactory placode to hypothalamus
Pt: Anosmia, no breast development or pubic hair, amenorrhea
Dx: ↓ estrogen, FSH / LH, otherwise normal anterior pituitary function, MRI
Tx: estrogen / progesterone at puberty, pulsatile GnRH when trying to become pregnant
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13. 17α-hydroxylase deficiency
Path: 17-OH deficiency → ↓ cortisol, ↓ adrenal / gonad sex steroids, ↑ mineralcorticoids
Pt: HTN, ↑ Na+ , ↓ K+
46XX: no breast or pubic hair, ♀ external genitalia, amenorrhea, + uterus
46XY: no breast or pubic hair, ♀ or ambiguous external genitalia, amenorrhea, no uterus
Dx: ↑11-deoxycortisone, ↑ corticosterone, ↑ ACTH, ↑ FSH/LH
Tx: hydrocortisone, XX: estrogen / progesterone, XY: testosterone 
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