Primary Amenorrhea
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 learnobgyn.com
learnobgyn.com
learnobgyn.com
learnobgyn.com
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 learnobgyn.com
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 learnobgyn.com
Mullerian Agenesis vs Androgen Insensitivity learnobgyn.com
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 learnobgyn.com
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 learnobgyn.com
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 learnobgyn.com
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 learnobgyn.com
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 learnobgyn.com