Abstract
References
- 1. Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Medical Journal of Australia 2011;194(1),24.
- 2. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4: 192-204.
- 3. Klein DA, Emerick JE, Sylvester JE, Voght KS. Disorders of Puberty: An Approach to Diagnosis and Management. American Family Physician, 2017;96(9):590-599.
- 4. Simpson JL, De La Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med 2003; 5: 460-468.
- 5. Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D,Francavilla S, Klinefelter ItaliaN Group (KING). Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Human Reproduction Update, 2017;23(3):265-275.
- 6. Zhang X, Yang J, Li Y, Ma X, Li R. Sex chromosome abnormalities and psychiatric diseases. Oncotarget, 2017:8(3):3969.
- 7. Ji B, Higa KK, Kelsoe JR, Zhou X. Over-expression of XIST, the master gene for X chromosome inactivation, in females with major affective disorders. EBioMedicine, 2015;2(8):909-918.
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
References
- 1. Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Medical Journal of Australia 2011;194(1),24.
- 2. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4: 192-204.
- 3. Klein DA, Emerick JE, Sylvester JE, Voght KS. Disorders of Puberty: An Approach to Diagnosis and Management. American Family Physician, 2017;96(9):590-599.
- 4. Simpson JL, De La Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med 2003; 5: 460-468.
- 5. Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D,Francavilla S, Klinefelter ItaliaN Group (KING). Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Human Reproduction Update, 2017;23(3):265-275.
- 6. Zhang X, Yang J, Li Y, Ma X, Li R. Sex chromosome abnormalities and psychiatric diseases. Oncotarget, 2017:8(3):3969.
- 7. Ji B, Higa KK, Kelsoe JR, Zhou X. Over-expression of XIST, the master gene for X chromosome inactivation, in females with major affective disorders. EBioMedicine, 2015;2(8):909-918.
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | August 27, 2018 |
| Submission Date | February 12, 2018 |
| Published in Issue | Year 2018 Volume: 12 Issue: 3 |
English or Turkish manuscripts from authors with new knowledge to contribute to understanding and improving health and primary care are welcome.