An Older Klinefelter's Syndrome Case with Bipolar Mood Disorder Living in Rural Area in Turkey

Abstract

Aim: The aim, in this case, is to report a patient with Klinefelter’s Syndrome, living in a rural area, at an advanced age having bipolar disorder. Both of the diseases are usually supposed to be diagnosed earlier. Methods: The patient was evaluated when he visited the family physician in the rural area for follow-up of diabetes mellitus and psychotic disorder within the scope of mobile family medicine services. During the visit, abnormal body structure of the patient attracted notice and the patient further evaluated. Results: Psychometric tests: Young mania rating scale result was found to be 1/60 and the Hamilton depression rating scale result was found to be 27. Measurements: The body measurements of the patient were found to be as follows: height: 197 cm, weight: 129 kg, Body Mass Index: 33.3 kg/m², arm span: 197 cm, pubis-to-floor: 107 cm, head-to-pubis: 90 cm, head circumference: 56.5 cm, waist circumference: 130 cm, hip circumference: 110 cm. Laboratory: The patient was diagnosed with pure KS by chromosome analysis of the peripheral blood. Ultrasonography: Scrotal doppler ultrasound examination revealed that the size of the right testicle was 20x8.5x12.5 mm (1.1 ml) and the size of the right testicle was 18x8x11 mm (0.8 ml) and both testicles were visualized to be hypoplastic. Conclusion: The chromosomal anomaly of the patient was diagnosed by a family doctor, who is also a part-time family medicine residency trainee, when the abnormal body structure, bipolar mood disorder, diabetes mellitus and infertility histories were associated. This case is a good example of the holistic approach. Rural medicine that is carried out in the form of mobile family practice in Turkey provided a significant contribution to the diagnosis of Klinefelter’s Syndrome in the patient.

Amaç: Bu olgu sunumunun amacı, kırsal bölgede yaşayan, ileri yaşta bipolar bozukluğu olan bir Klinefelter’s Sendromu olgusunu sunmaktır. Her iki hastalığın da daha erken ortaya çıkması beklenirdi. Yöntem: Hasta, Diabetes Mellitus ve psikiyatrik rahatsızlığı sebebiyle, kırsal bölgede, aile hekimi ziyareti sırasında değerlendirildi. Muayene sırasında, anormal vücut yapısı dikkat çekti ve hasta ileri tetkik edildi. Sonuçlar: Psikometrik testler: Young Mani ölçeği 1/60 ve Hamilton Depresyon skalası sonucu 27 bulundu. Ölçümler: Hastanın vücut ölçüleri şu şekildedir; boy: 197 cm, ağırlık: 129 kg, Vücut Kitle İndeksi: 33,3 kg/m², kulaç uzunluğu: 197 cm, kalça çevresi: 110 cm. Laboratuar: Hastaya periferik kan kromozomal analizinde saf Klinefelter’s Sendromu olarak tanı kondu. Ultrason: Skrotal ultrasonda sağ testis büyüklüğü 20x8,5x12,5 mm (1,1 ml) ve sol testis büyüklüğü 18x8x11 mm (0,8 ml) olarak ölçüldü ve her iki testis hipoplazik olarak değerlendirildi. Sonuç: Kromozomal anomali, aynı zamanda yarı zamanlı aile hekimliği uzmanlık öğrencisi olan bir aile doktoru tarafından, anormal vücut görünümü, bipolar mizaç bozukluğu, diabetes mellitus ve infertilite öyküleri birleştirilerek konulmuştur. Bu olgu bütüncül yaklaşım için güzel bir örnektir. Türkiye’de aile hekimleri tarafından yürütülen kırsal hekimlik hizmetinin de bu hastada Klinefelter’s sendromu tanısı koymada katkısı vardır.

 

Keywords

• Klinefelter's syndrome,rural medicine,family medicine,bipolar disorder,holistic approach,mobile services,part-time education

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