Table 1 Differential diagnosis of primary amenorrhea with developed secondary sexual characteristics
From: A rare variant of mullerian agenesis: a case report and review of the literature
Parameters | Conditions | |||
|---|---|---|---|---|
MRKH syndrome | AI Syndrome | Transverse vaginal septum | Imperforate hymen | |
Symptoms | Primary amenorrhea | Primary amenorrhea | Primary amenorrhea with cyclical abdominal pain urinary retention (rare) | Primary amenorrhea with cyclical abdominal pain urinary retention (rare) |
Examination findings | Normal height external genitalia–normal female Thelarche–normal Pubarche–normal | Usually taller than normal females for their age. External genitalia–normal female, unilateral or bilateral mass in the inguinal canal thelarche–normal pubarche–sparse hair or absent | Normal height external genitalia–normal female Thelarche–normal Pubarche–normal | Normal height external genitalia–bluish, bulging membrane Thelarche–normal Pubarche–normal |
Karyotype | 46, XX | 46, XY | 46, XX | 46, XX |
Imaging | Absence of uterus, cervix, upper vagina, or all, normal ovaries | Absence of uterus, cervix, and upper vagina, absence of internal Wolffian duct elements, testicular tissue in the inguinal canal | Hematocolpos with or without hematometra empty lower vagina septa may be seen | Hematocolpos with or without hematometra collection up to the opening of the introitus |
Hormonal levels | Normal FSH, LH testosterone–female levels | Normal FSH, LH testosterone–male levels | Normal FSH, LH testosterone–female levels | Normal FSH, LH testosterone–female levels |