A case of Malouf Syndrome in a 26 year old
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Introduction:
Malouf syndrome was first diagnosed in 1985 upon the examination of two sisters with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. As a consequence of the fact that the parents of these sisters were first-degree cousins, Malouf pointed out that this syndrome was familial. Later on, Narahara diagnosed another sporadic case with the same findings and a detailed characterization was made by autopsy. Here we present two typical cases of Malouf syndrome.

Case:
In Figure 1, Twenty-six-year-old women presented to our clinic with a complaint of amenorrhea. She was 165?cm in height and 65?kg in weight. In this patient, a finding of blepharoptosis and a finding of broad nasal base were not very evident. In physical examination her external genital organs were in normal appearance. As the patient was virgin, vaginal examination was not performed. By means of hysterometry, vaginal length was measured as 8?cm. Breast development was concordant with Tanner phase 2. Ultrasonography revealed a hypoplastic uterus and the bilateral ovaries could not be clearly seen. In the magnetic resonance imaging examination, it was ascertained that the uterus was smaller than normal dimensions, and bilateral ovaries were not observed...

Read more : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269178/
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