AIIMS November 2011 – MCQ 150

Müllerian aplasia or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, refers to congenital absence of the vagina with variable uterine development. It results from agenesis or hypoplasia of the müllerian duct system.normal female karyotype with normal ovaries and ovarian function, thus they develop normal secondary sexual characteristics (eg, breast development, axillary hair, and public hair) except menarche does not occur. They often present with primary amenorrhea at 15 to 17 years of age. 2cnd most common cause.

Sweyer??? ( I think you meant Swyer) syndrome
Individuals with Swyer syndrome are phenotypically
female with unambiguously female genital appearance at
birth and normal Mullerian structures. The condition usually
first becomes apparent in adolescence with delayed puberty
and amenorrhoea due to the fact that the gonads have no
hormonal or reproductive potential. A high incidence of
gonadoblastoma and germ cell malignancies has been reported,
and therefore, the current practice is to proceed to
a gonadectomy once the diagnosis is made.SRY gene mutations that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. A fetus whose cells do not produce functional sex-determining region Y protein will develop as a female despite having a Y chromosome.
http://ghr.nlm.nih.gov/condition/swyer-syndrome
http://www.aissg.org/PDFs/M-G-Creighton-Conway-Swyer-2008.PDF

Turner syndrome is the most common sex-chromosome abnormality in female conceptions. 45,X karyotype . Many patients with Turner syndrome are short and stocky and have a squarely shaped chest. Neonates may have congenital lymphedema of the hands and feet and two or more of the following dysmorphic features: webbed neck, nail dysplasia, high palate, and short fourth metacarpal. Hearing loss, hypothyroidism, and liver enzymes elevation. Intelligence is usually within the normal range, but patients may have specific neurocognitive deficits, eg, problems with visuo-spatial organization. Other manifestations include autoimmune diseases (including chronic autoimmune thyroiditis).

uptodate.com

A