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Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review.

Şilfeler DB, Karateke A, Keskin Kurt R, Aldemir Ö, Buğra Nacar A, Baloğlu A - Case Rep Obstet Gynecol (2014)

Bottom Line: Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base.Later on, Narahara diagnosed another sporadic case with the same findings.A survey of relevant literature leads us to three women cases in total.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Mustafa Kemal University Medical School, Hatay, Turkey.

ABSTRACT
Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. Later on, Narahara diagnosed another sporadic case with the same findings. A survey of relevant literature leads us to three women cases in total. Here we present two cases of Malouf syndrome and literature review.

No MeSH data available.


Related in: MedlinePlus

Case 2. Patient's face.
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fig2: Case 2. Patient's face.

Mentions: The patient (Figure 2), who was twenty-two years old, 155 cm in height, and 80 kg in weight, applied to the clinic with a complaint of amenorrhea. In this patient, a finding of broad nasal base was not very evident (Figure 2). External genital organs were normal in appearance. As the patient was virgin, no vaginal examination could be performed. By means of hysterometry, vaginal length was measured as 7,5 cm and breast development was concordant with Tanner phase 1. Pelvic ultrasonography revealed that there were no uterus and ovaries. MRI examination indicated that the dimensions of the uterus were extremely small, and bilateral ovaries were absent. FSH value was determined to be 95 IU/L, LH 35 IU/L, and estradiol 10 mg/dL. In the chromosome analysis, the patient was recorded as 46, XX 15q deletion. As the elder sister of the patient had a sudden cardiac death history, cardiological consultation was requested. The electrocardiogram showed sinus tachycardia (heart rate 120/min) with normal axis deviation and nonspecific ST-T wave abnormalities. Chest X-ray showed moderate cardiomegaly with a cardiothoracic ratio of 0.58. On the echocardiogram, left ventricular dilatation was observed with an ejection fraction of 35%. Her echocardiographic findings were consistent with a diagnosis of dilated cardiomyopathy and she followed with on medical therapy.


Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review.

Şilfeler DB, Karateke A, Keskin Kurt R, Aldemir Ö, Buğra Nacar A, Baloğlu A - Case Rep Obstet Gynecol (2014)

Case 2. Patient's face.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4269178&req=5

fig2: Case 2. Patient's face.
Mentions: The patient (Figure 2), who was twenty-two years old, 155 cm in height, and 80 kg in weight, applied to the clinic with a complaint of amenorrhea. In this patient, a finding of broad nasal base was not very evident (Figure 2). External genital organs were normal in appearance. As the patient was virgin, no vaginal examination could be performed. By means of hysterometry, vaginal length was measured as 7,5 cm and breast development was concordant with Tanner phase 1. Pelvic ultrasonography revealed that there were no uterus and ovaries. MRI examination indicated that the dimensions of the uterus were extremely small, and bilateral ovaries were absent. FSH value was determined to be 95 IU/L, LH 35 IU/L, and estradiol 10 mg/dL. In the chromosome analysis, the patient was recorded as 46, XX 15q deletion. As the elder sister of the patient had a sudden cardiac death history, cardiological consultation was requested. The electrocardiogram showed sinus tachycardia (heart rate 120/min) with normal axis deviation and nonspecific ST-T wave abnormalities. Chest X-ray showed moderate cardiomegaly with a cardiothoracic ratio of 0.58. On the echocardiogram, left ventricular dilatation was observed with an ejection fraction of 35%. Her echocardiographic findings were consistent with a diagnosis of dilated cardiomyopathy and she followed with on medical therapy.

Bottom Line: Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base.Later on, Narahara diagnosed another sporadic case with the same findings.A survey of relevant literature leads us to three women cases in total.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Mustafa Kemal University Medical School, Hatay, Turkey.

ABSTRACT
Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. Later on, Narahara diagnosed another sporadic case with the same findings. A survey of relevant literature leads us to three women cases in total. Here we present two cases of Malouf syndrome and literature review.

No MeSH data available.


Related in: MedlinePlus