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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 1. Patient's face.
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Related In: Results  -  Collection


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fig1: Case 1. Patient's face.

Mentions: 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 (Figure 1). 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 (MRI) examination, it was ascertained that the uterus was smaller than normal dimensions, and bilateral ovaries were not observed. Complete blood count and serum biochemical parameters were found to be normal, and follicle stimulating hormone (FSH) was determined to be 77 IU/L, luteinizing hormone (LH) 25 IU/L, and estradiol 12 mg/dL. These were measured using standard enzymatic methods with a fully automated random access chemiluminescence-enhanced enzyme immunoassay system (Roche Laboratory Systems, Mannheim, Germany). The patient with a chromosome analysis of 46 XX was enabled to menstruate with the support of estradiol and progesteron. After seven years, the patient was consulted to cardiology department because of sudden onset of dyspnea and chest pain. On physical examination she had blood pressure (BP) of 90/65 mmHg, raised jugular venous pressure (JVP), crackles over the lung bases, and a pansystolic murmur at the apex. Besides, her electrocardiogram revealed sinus tachycardia with left bundle brunch block with QRS duration of 160 ms and a normal corrected QT interval. Chest X-ray revealed a prominent cardiomegaly with pulmonary congestion. The patient underwent echocardiography which demonstrated biventricular dilatation with global hypokinesia and moderate mitral valvular regurgitation. Diastolic and systolic diameters of the left ventricle were 69 and 55 mm, respectively. The left ventricular ejection fraction was 20–25%. Pulmonary artery systolic pressure calculated from tricuspid regurgitation was 65 mmHg. After 3-month close follow-up with guideline directed medical therapy, she underwent cardiac resynchronization-defibrillator therapy. From a cardiological viewpoint, the patient was evaluated to be in end-stage and in 2012, she died of cardiomyopathy and cardiac insufficiency.


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

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

fig1: Case 1. Patient's face.
Mentions: 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 (Figure 1). 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 (MRI) examination, it was ascertained that the uterus was smaller than normal dimensions, and bilateral ovaries were not observed. Complete blood count and serum biochemical parameters were found to be normal, and follicle stimulating hormone (FSH) was determined to be 77 IU/L, luteinizing hormone (LH) 25 IU/L, and estradiol 12 mg/dL. These were measured using standard enzymatic methods with a fully automated random access chemiluminescence-enhanced enzyme immunoassay system (Roche Laboratory Systems, Mannheim, Germany). The patient with a chromosome analysis of 46 XX was enabled to menstruate with the support of estradiol and progesteron. After seven years, the patient was consulted to cardiology department because of sudden onset of dyspnea and chest pain. On physical examination she had blood pressure (BP) of 90/65 mmHg, raised jugular venous pressure (JVP), crackles over the lung bases, and a pansystolic murmur at the apex. Besides, her electrocardiogram revealed sinus tachycardia with left bundle brunch block with QRS duration of 160 ms and a normal corrected QT interval. Chest X-ray revealed a prominent cardiomegaly with pulmonary congestion. The patient underwent echocardiography which demonstrated biventricular dilatation with global hypokinesia and moderate mitral valvular regurgitation. Diastolic and systolic diameters of the left ventricle were 69 and 55 mm, respectively. The left ventricular ejection fraction was 20–25%. Pulmonary artery systolic pressure calculated from tricuspid regurgitation was 65 mmHg. After 3-month close follow-up with guideline directed medical therapy, she underwent cardiac resynchronization-defibrillator therapy. From a cardiological viewpoint, the patient was evaluated to be in end-stage and in 2012, she died of cardiomyopathy and cardiac insufficiency.

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