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Klinefelter Syndrome is the most common sex chromosomal disorder in males. The clinical features of Klinefelter syndrome are characterized by significant testicular dysfunction, hypogonadal symptoms, atrophic testes and gynecomastia. These patients can apply to the physician with symptoms specific to the syndrome or general symptoms.
In addition to specific physical examination findings, the hormone profile is consistent with primary hypogonadism. The definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. Early diagnosis and treatment are important.
With hormone replacement therapy, muscle mass, bone mineral density and libido are improved. In general, patients with Klinefelter Syndrome are infertile, but fertilization can be achieved with assisted reproductive techniques. We present a case with dyspeptic symptoms and suspected physical examination findings and diagnosed as Klinefelter Syndrome. Klinefelter syndrome is the most common sex chromosomal disorder in males, characterized by additional one or more X chromosomes. The prevalence is approximately 1 in males at birth.
Klinefelter Syndrome is a systemic problem, but most of the cases diagnosed from hospital admission with infertility. Typical clinical features of Klinefelter Syndrome are eunucoide masculinization owing to the lack of androgens and long stature, gynecomastia, small testes, azoospermia and infertility. Patients are diagnosed during and after puberty. Laboratory and clinical findings in adult patients are consistent with hypergonadotropic hypogonadism. The definitive diagnosis is made by chromosome analysis from lymphocytes in the peripheral blood.
In addition to infertility, patients with Klinefelter Syndrome have also been shown to have significant health problems leading to high morbidity and mortality 2 , 3. Therefore, early diagnosis of these patients is important. We present a case of dyspeptic symptoms that we diagnosed with Klinefelter Syndrome. Our aim is to emphasize that the physical examination of patients is still very important with this case.
A year-old married male patient presented to our clinic with complaints of bilateral lateral pain, epigastric pain and abdominal distention. He had no special medical history accept of previous operation with peptic ulcer ,20 years ago.
Family history was unremarkable. On physical examination, his weight was 88 kg and height was cm. Phenotypically, hypogonadism was observed. There was a reduction in the beard and mustache. He had gynecomastia. There was a reduction in axillary and pupil hair. At the genital system examination, the penis was normal in size, the mea structure was normal, the testes were atrophic. In testicular USG, both of testes were atrophic, highly heterogeneous and microlithiasis were seen.
When his story was deepened, it was learned that he had been married for 15 years and had no children. The patient, who had never been investigated due to infertility, was examined further. Blood biochemistry and hemogram were normal.
Vitamin D deficiency was also detected. FSH: Azoospermia was detected in the patient's semen analysis. Karyotype analysis was performed. Chromosome analysis was found to be 47, XXY. Figure Chromosome analysis by GPL banding after peripheral blood cell culture of the patient :.
Klinefelter Syndrome is the first identified chromosome anomaly. It is characterized by hypogonadism and eunucoide body structure. Klinefelter Syndrome is the first chromosomal anomaly.
It is characterized by hypogonadism and anterior body structure. No significant phenotypic differences occur until puberty. Puberty time is normal, but the testes are small and secondary sex characters are underdeveloped. Although serum testosterone levels are not always very low, it is an important laboratory finding that serum follicle-stimulating hormone levels are above normal.
The studies show that the prevalence of Klinefelter syndrome is increasing due to advanced father age 4. Klinefelter's syndrome is a syndrome that is usually diagnosed during adulthood due to late puberty and infertility. It may be difficult to diagnose because of the inability to detect a typical phenotype in each case 5. A typical finding in semen analysis in the majority of patients with Klinefelter Syndrome is azoospermia.
Although the patients with Klinefelter Syndrome are considered as infertile, it can be fertilized with some assisted reproductive techniques. In our case there was infertility. Hormone profile was consistent with primary hypogonadism. Osteoporosis is frequently seen in patients with Klinefelter Syndrome.
The reason for this is thought to be the antiresorptive effect of testosterone hormone, leading to an increase in bone density in the lumbar spine. In a study comparing Klinefelter cases in Denmark with same age group control cases, significant health problems such as osteoporosis and diabetes mellitus were increased in individuals with Klinefelter syndrome 6.
We've detected low levels of testosterone in our case. We determined that bone mineral density was low in the DEXA measurements of the patient. Klinefelter Syndrome can lead to serious health problems that cause not only infertility but also significant morbidity and mortality. Therefore, the evaluation of men with Klinefelter Syndrome by multidisciplinary approach is important for determining the morbidity of patients.
As a result, Klinefelter Syndrome is most commonly diagnosed while investigating the cause of infertility. However, it should be kept in mind that these patients may also consult the physician with the disease-specific other than infertility and disease-unrelated symptoms. And Klinefelter Syndrome can be diagnosed with systemic evaluation of patients. The aim of this case report is to emphasize that physical examination findings may be a clue to the syndromes apart from the complaints that bring the patient to us.
It should be kept in mind that the presence of infertility together with physical examination findings may be associated with Klinefelter Syndrome. Statistics from Altmetric. Downloads Download data is not yet available. Abstract Klinefelter Syndrome is the most common sex chromosomal disorder in males. Keywords: Dyspepsia, İnfertility, Klinefelters syndrome. J Clin Endocrinol Metab. Find in text Klinefelter syndrome 3. Syndromes of the Head and Neck. Find in text Is the prevalence of Klinefelter syndrome increasing?
Eur J Hum Genet. Sex Dev. Find in text. Author's Affiliation. International Journal of Medical Science and Clinical invention, Article Details. Issue: Vol. How to Cite. Polat, H. We Recommend.
Klinefelter syndrome KS , also known as 47, XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome occurs randomly. While no cure is known, a number of treatments may help. Klinefelter syndrome is one of the most common chromosomal disorders , occurring in one to two per 1, live male births. The primary features are infertility and small poorly functioning testicles.
Klinefelter Syndrome is the most common sex chromosomal disorder in males. The clinical features of Klinefelter syndrome are characterized by significant testicular dysfunction, hypogonadal symptoms, atrophic testes and gynecomastia. These patients can apply to the physician with symptoms specific to the syndrome or general symptoms. In addition to specific physical examination findings, the hormone profile is consistent with primary hypogonadism.
A New Dıagnosıs Klınefelter Syndrome Refer To Hospital With Dyspeptic Complaınts
Between 1 in and 1 in males have Klinefelter syndrome . Variants of Klinefelter syndrome occur more infrequently; approximately 1 in 50, or fewer newborns has a variant of Klinefelter syndrome . Most men are diagnosed as adults in the context of male infertility. Klinefelter syndrome is underdiagnosed because the condition is often not identified in men with mild signs and symptoms.
The so-called Klinefelter clinical syndrome was first defined in by Harry Klinefelter and his colleagues by showing the elevated excretion of urine FSH on 9 male patients who had small testes, gynecomastia and no ability of spermatogenesis 1. It was thought to be an endocrine disease yet the etiology was not found at that time. In , Plunkett and Barr, studied buccal mucosa cells of men with Klinefelter syndrome and described the pathognomonic appearance, nowadays called Barr body 2. In , Jacobs and Strong stated that Klinefelter syndrome was a chromosomal disease and they were able to identify a 47,XXY chromosome structure created by an extra X chromosome causing this clinical picture 3. Klinefelter syndrome is the most common sex chromosome disorder in males.