[Diagnosis differential of Klinefelter's syndrome in a 24-year old male hospitalized with with sudden dyspnoea--case report].
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Abstract:
Klinefelter's syndrome is the most common genetically determined cause of male infertility. It is also connected with higher risk of many diseases such as cardiovascular disorders and malignant tumors as breast cancer and germinal tumors. As a consequence of phenotypic variability, still the majority of cases remains undiagnosed.24 years old male who was admitted to the department because of an episode of sudden resting dyspnoea with the coexisting pain in the retrosternal region and a state of anxiety. Performed examinations did not confirm the diagnosis of heart muscle dysfunction and pulmonary embolism either. However, we noticed the constellation of the specific phenotype features of this patient: high stature, gynecomastia, abdominal obesity, poor hair growth in genital regions. The hormonal tests were performed that allowed to diagnose the hypergonadotropic hypogonadism. Cytogenetic examination revealed the abnormal karyotype of 47,XXY.There are no clear references as to diagnosing the Klinefelter's syndrome. Probably, like in this case report, in the majority of cases the diagnosis is accidental.Keywords:
Klinefelter syndrome
Gynecomastia
Hypergonadotropic hypogonadism
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Klinefelter's syndrome is the most common genetically determined cause of male infertility. It is also connected with higher risk of many diseases such as cardiovascular disorders and malignant tumors as breast cancer and germinal tumors. As a consequence of phenotypic variability, still the majority of cases remains undiagnosed.24 years old male who was admitted to the department because of an episode of sudden resting dyspnoea with the coexisting pain in the retrosternal region and a state of anxiety. Performed examinations did not confirm the diagnosis of heart muscle dysfunction and pulmonary embolism either. However, we noticed the constellation of the specific phenotype features of this patient: high stature, gynecomastia, abdominal obesity, poor hair growth in genital regions. The hormonal tests were performed that allowed to diagnose the hypergonadotropic hypogonadism. Cytogenetic examination revealed the abnormal karyotype of 47,XXY.There are no clear references as to diagnosing the Klinefelter's syndrome. Probably, like in this case report, in the majority of cases the diagnosis is accidental.
Klinefelter syndrome
Gynecomastia
Hypergonadotropic hypogonadism
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Objective: Delayed puberty is defined as lack of breast development after the age of 13 years in girls, and lack of testes enlargement after the age of 14 years in boys. Considering the importance of delayed puberty, the present study tries to analyze its etiological factors. It is hoped that the study would help developing programs, aiming at drawing the attention of families, health centers and physicians to the necessity of early diagnosis and timely treatment of delayed puberty. Material & Methods: In this observational descriptive study, we reviewed the etiology of delayed puberty in affected patients, who had been referred to the Institute for Endocrinology and Metabolism in Tehran, during a period of 5 years from 1995 to 1999. Findings: Patients (32 boys and 16 girls) were divided into 3 groups based on clinical and laboratory information. 24 patients (50%) were categorized in the group of hypogonadotropic hypogonadism (including 18 cases with isolated hypogonadotropic hypogonadism, 2 cases of Kallmann_syndrome, 3 cases with hypopituitarism, 1 case with hypogondism and thalassemia). 14 (29.2%) patients including 13 boys and 1 girl were categorized in the group with constitutional delay of growth and puberty. 10 patients (20.8%) were categorized in the group with hypergonadotropic hypogonadism (including 6 cases with Turner syndrome, 2 cases with Klinefelter syndrome, 2 cases with 46XX pure gonadal dysgensis). The most common cause of hypogonadism in boys was constitutional delay of growth and puberty (40.6%) and hypogonadotropic hypogonadism (40.6%) while in girls it was Turner syndrome (37.5%). The most common cause for patients to be referred was short stature (43/5%) and then non appearance of pubertal signs (37.5%). Conclusion: When facing patients with delayed puberty, hypergonadotropic hypogonadism in girls, and constitutional delay of growth and puberty as well as hypogonadotropic hypogonadism in boys, should be considered as the first diagnosis. In all patients, who are referred due to short stature, the stage of puberty should be determined and delayed puberty should be considered as differential diagnosis.
Hypergonadotropic hypogonadism
Delayed puberty
Etiology
Kallmann syndrome
Pediatric endocrinology
Breast development
Gynecomastia
Klinefelter syndrome
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Hypergonadotropic hypogonadism
Klinefelter syndrome
Micropenis
Gynecomastia
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Klinefelter syndrome is one of the most frequent sex chromosomal aberration. It is usually not recognized before puberty and many patients remain never diagnosed. Delayed puberty and hypergonadotropic hypogonadism are typical in this syndrome. Early diagnosis and therapy with androgens is important for patients. We present case of 8-year old boy with Klinefelter syndrome who was admitted to our department because of precocious puberty.
Hypergonadotropic hypogonadism
Klinefelter syndrome
Delayed puberty
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Gynaecomastia in adolescents is a benign glandular proliferation of the male breast. Secondary causes of gynaecomastia in adolescents are relatively rare and may result from a wide variety of rare pathological conditions. Among these, klinefelter syndrome, complete androgen resistance, adrenal tumours and oestrogen-secreting testicular tumours, hypogonadism, hyperthyroidism, kidney disease and medications play a role in aetiology. The aim of our study is to review the demographic characteristics, hormone profile, aetiological characteristics of paediatric gynaecomastia patients admitted to a single center and to determine the frequency of pathological gynaecomastia. Forty-three male patients with gynaecomastia who applied to the paediatric endocrinology outpatient clinic were included in our study. Demographic characteristics, physical examination findings, hormone profile, breast ultrasonography and karyotype results of the patients were recorded. There were 43 male patients in our study. Thirty-six (83.7%) of the patients were pubertal gynaecomastia, 7 (16.2%) were pathological gynaecomastia. Three of the patients with pathological gynaecomastia were prepubertal gynaecomastia, 2 had klinefelter syndrome, 1 had hypergonadotropic hypogonadism after acute lymphoblastic leukaemia treatment and 1 had gynaecomastia after spirololactone use. Careful evaluation of patients with gynaecomastia is especially important in detecting pathological types. We reported the rare prepubertal gynaecomastia and klinefelter frequency in our study.
Gynecomastia
Klinefelter syndrome
Hypergonadotropic hypogonadism
Etiology
Pediatric endocrinology
Breast development
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Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, androgen deficiency, and normal to slightly decreased verbal intelligence. Apart from that, amongst others, osteoporosis, varicose veins, thromboembolic disease, or diabetes mellitus are observed. Some of the typical features can be very weakly pronounced so that the affected men often receive the diagnosis only at the adulthood by their infertility. With a frequency of 4%, KS is described to be the most common genetic reason for male infertility. The most widespread karyotype in affected patients is 47,XXY. Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). The focus of this review was to abstract the different phenotypes, which come about by the various karyotypes and to compare them to those with a ‘normal’ KS karyotype. For that the patients have been divided into 6 different groups: Klinefelter patients with an additional isochromosome Xq, with additional rearrangements on 1 of the 2 X chromosomes or accordingly on the Y chromosome, as well as XX males and true hermaphrodites, 47,XXY females and Klinefelter patients with other numeric sex chromosome abnormalities. In the latter, an almost linear increase in height and developmental delay was observed. Men with an additional isochromosome Xq show infertility and other minor features of ‘normal’ KS but not an increased height. Aside from the infertility, in male patients with other der(X) as well as der(Y) rearrangements and in XXY women no specific phenotype is recognizable amongst others due to the small number of cases. The phenotype of XX males depends on the presence of <i>SRY</i> (sex-determining region Y) and the level of X inactivation at which <i>SRY</i>-negative patients are generally rarely observed.
Klinefelter syndrome
Isochromosome
Gynecomastia
Hypergonadotropic hypogonadism
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Klinefelter syndrome
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Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility. There are no guidelines regarding XX male syndrome, so the aim of our study was to evaluate the literature evidence in order to guide the physicians in the management of these type of patients. Materials and Methods: We performed a systematic review of the available literature in September 2018, using MEDLINE, Web of Science, Embase and Google Scholar database to search for all published studies regarding XX male syndrome according to PRISMA guidelines. The following search terms were used: “46 XX male”, “DSD”, “infertility”, “hypogonadism”. Results: After appropriate screening we selected 37 papers. Mean (SD) age was 33.14 (11.4) years. Hair distribution was normal in 29/39 patients (74.3%), gynecomastia was absent in 22/39 cases (56.4%), normal testes volume was reported in 0/14, penis size was normal in 26/32 cases (81.2%), pubic hair had a normal development in 6/7 patients (85.7%), normal erectile function was present in 27/30 cases (90%) and libido was preserved in 20/20 patients (100%). The data revealed the common presence of hypergonadotropic hypogonadism. All patients had a 46,XX karyotype. The sex-determining region Y (SRY) gene was detected in 51/57 cases. The position of the SRY was on the Xp in the 97% of the cases. Conclusions: An appropriate physical examination should include the evaluation of genitalia to detect cryptorchidism, hypospadias, penis size, and gynecomastia; it is important to use a validated questionnaire to evaluate erectile dysfunction, such as the International Index of Erectile Function (IIEF). Semen analysis is mandatory and so is the karyotype test. Abdominal ultrasound is useful in order to exclude residual Müllerian structures. Genetic and endocrine consultations are necessary to assess a possible hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended, and adoption or in vitro fertilization with a sperm donor are fertility options.
Testis determining factor
Gynecomastia
Hypergonadotropic hypogonadism
Klinefelter syndrome
Pubic hair
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