<unk>  is present at birth meaning that it is congenital, but can be left undiagnosed or unidentified until adolescence when female puberty begins. The start of the females menstrual cycle commences her puberty years, however primary amenorrhea or lack of menstruation, may be what brought a patient in to see a physician and that is when diagnosis begins. Due to this condition being extremely rare, a diagnosis of<unk>  may be suspected only after having done extensive clinical evaluation, detailed patient history, and the identification of characteristic symptoms. These symptoms include an absent or underdeveloped uterus and/or vagina occurring in conjunction with normal external genitalia. Specialized imaging techniques such as ultrasounds or magnetic resonance imaging (MRI) can be used to see images of the internal organs (uterus, ovaries, and kidney) to further confirm<unk> . In addition, due to modern science, molecular genetic analysis can reveal any mutations of the<unk>  gene to confirm this diagnosis. Karyotyping can be performed as well to rule out any other conditions because it examines the integrity of chromosome in a sample of cells. A female presenting with<unk>  will have a normal 46, XX karyotype, however, abnormalities on those chromosomes can be seen. Related Disorders / Common Misdiagnoses<unk>  can sometimes be misdiagnosed because there are other disorders that elicit very similar symptoms. One other rare disorder is known as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It is said that women who have<unk>  have been misdiagnosed with MRKH syndrome due to very similar signs and symptoms, however, the main difference is that in MRKH syndrome, there is no mutation present on the<unk>  gene even though there is an underdevelopment of the uterus/vagina and amenorrhea while still maintaining normal ovarian function. MRKH syndrome is typically the first diagnosis given, but upon extensive genetic testing and imaging analysis,<unk>  is the correct diagnosis. Additionally, complete androgen insensitivity syndrome is a rare disorder in which individuals are genetically male (46, XY) but they do not respond to androgens. This syndrome demonstrates intersex because phenotypically the person is female and displays all external phenotypes of a female, but genetically male because their karyotype denotes 46, XY.
WNT4 deficiency
Janus kinase 3 deficiency
MECP2 duplication syndrome
GATA2 deficiency
ZC4H2 deficiency
DOCK8 deficiency
NGLY1 deficiency
8p23.1 duplication syndrome