scholarly journals SUN-161 Primary Aldosteronism and Klinefelter’s Syndrome: Two Cases

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Yasufumi Seki ◽  
Satoshi Morimoto ◽  
Naohiro Yoshida ◽  
Kanako Bokuda ◽  
Nobukazu Sasaki ◽  
...  
Keyword(s):  
Primary Aldosteronism ◽  
Physiological Role ◽  
Immunohistochemical Analysis ◽  
High Serum ◽  
Total Testosterone ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Plasma Aldosterone Concentration ◽  
Lh Receptor ◽  
Serum Lh

Abstract Background: Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of LH receptor in patients with PA has been reported, however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Clinical Cases: Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a two-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Conclusion: Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered.

scholarly journals Primary aldosteronism in Klinefelter’s syndrome: two cases

2019 ◽  
Vol 2019 ◽  
Author(s):  
Yasufumi Seki ◽  
Satoshi Morimoto ◽  
Naohiro Yoshida ◽  
Kanako Bokuda ◽  
Nobukazu Sasaki ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Primary Aldosteronism ◽  
Luteinizing Hormone Receptor ◽  
List Type ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Plasma Aldosterone Concentration ◽  
Lh Receptor ◽  
Serum Lh ◽  
Aldosterone Producing Adenoma

Summary Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of luteinizing hormone (LH) receptor in patients with PA has been reported; however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a 2-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered. Learning points: The pathogenesis of primary aldosteronism is still unclear. Expression of luteinizing hormone receptor has been reported in aldosterone-producing adenoma. Serum luteinizing hormone, which is increased in patients with Klinefelter’s syndrome, might contribute to the development of primary aldosteronism.

scholarly journals SUN-029 Diabetes Mellitus Associated with Klinefelter Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Carolina Sarria ◽  
william lapa Yauri
Keyword(s):  
Diabetes Mellitus ◽  
Diabetic Ketoacidosis ◽  
Klinefelter Syndrome ◽  
Young Male ◽  
Cellular Tissue ◽  
Total Testosterone ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Testosterone Undecanoate

Abstract Background: It has not been clarified why diabetes mellitus develops in patients with Klinefelter’s syndrome. However the association between both diseases is frequent. Clinical Case: A 31-years-old man with type 2 diabetes diagnosed 2 months ago who received metformin for treatment. He presented to the hospital with dysuria, polyuria, polydipsia, weight loss, hyporexia, vomiting and drowsiness. On examination: BP: 110/60 mmHg, HR: 108 lp, FR: 24 rp, T °: 37 ° C, BMI: 31.4 kg / m2, oral mucosa dry, bilateral gynecomastia, subcutaneous cellular tissue of gynecoid distribution. His body hair was thin. His penis was small and both testicles were prepubertal. Laboratory: Glucose: 410 mg / dl; HbA1c 15.2%; creatinine: 1.01 mg / dl; arterial gases: pH 7.14 pCO2: 20, HCO3: 6.6, AG: 29. Normal electrolytes. Ketonuria: 3+. We concluded: diabetic ketoacidosis. In addition, FSH 61.18 μU / ml (RR: 1.5-12.5); LH: 28.47 μU / ml (RR: 0.7-8.6); Total testosterone: 0.41 ng / ml (RR: 2.8-8), compatible with hypergonadotropic hypogonadism. Therefore a karyotype is requested in peripheral blood, resulting in 47, XXY in 20 metaphases analyzed. Klinefelter’s syndrome was diagnosed from his physical characteristics, hormonal findings and his chromosomal aberration. He received testosterone undecanoate every 4 weeks, NPH insulin 12 IU / 8UI plus metformin 850 mg every 12 hours. Three months later: baseline glucose 89 mg / dl and HbA1C of 9.5%. Conclusion: We present the case of a young male with diabetic ketoacidosis and hypogonadism, secondary to Klinefelter syndrome. Klinefelter syndrome is associated with Diabetes mellitus with a RR that varies from 1.64 to 7.06 according to current literature. In addition, we highlight the importance of the medical history and physical examination for an adequate diagnosis of rare conditions such as Klinefelter Syndrome. Reference: 1. Kanakis GA, Nieschlag E. Klinefelter syndrome: more than hypogonadism. Metabolism. Septembere 2018;86:135-44.

Isolated Primary Aldosteronism in a Patient with Adrenal Carcinoma and XY/XXY Mosaic Klinefelter’s Syndrome

1990 ◽  
Vol 144 (6) ◽  
pp. 1454-1456 ◽  
Author(s):  
Julio Pascual ◽  
Fernando Liaño ◽  
Augusto García-Villanueva ◽  
J.L. Salvador ◽  
José A. Herrero ◽  
...  
Keyword(s):  
Primary Aldosteronism ◽  
Klinefelter’S Syndrome ◽  
Adrenal Carcinoma ◽  
Klinefelter's Syndrome

Serum concentrations of gonadotrophins in hypergonadotrophic patients following stimulation by a long-acting analogue of luteinizing hormone-releasing hormone

1983 ◽  
Vol 102 (4) ◽  
pp. 610-615
Author(s):  
H. Vierhapper ◽  
W. Waldhäusl ◽  
G. Klaushofer ◽  
W. Stackl
Keyword(s):  
Luteinizing Hormone ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Maximum Serum ◽  
Luteinizing Hormone Releasing Hormone ◽  
Healthy Men ◽  
Releasing Hormone ◽  
Healthy Women ◽  
Serum Lh ◽  
Long Acting

Abstract. The effect of D-Ser(TBU)6-EA10-LRH, a long-acting analogue of luteinizing hormone-releasing hormone (LRH), was studied in patients with hypergonadotrophism due to orchidectomy (n = 8) or due to Klinefelter's syndrome (n = 6). Patients orchidectomized less than 7 days prior to the administration of the compound presented with maximum concentrations of LH (63.8 ± 29.9 mIU/ml) within 60 min following iv injection of the LRH-analogue (10 μg). This behaviour of LH was qualitatively similar to that seen in healthy men. In patients orchidectomized more than 40 days prior to the administration of the LRH-analogue and in patients with Klinefelter's syndrome the occurrence of maximum serum LH-concentrations (115.0 ± 39.4 and 149.4 ± 134.5 mIU/ml, respectively) was delayed up to 240–360 min following iv LRH-analogue. This pattern of LH secretion is similar to that of healthy women. No qualitative differences in stimulated FSH-concentrations were observed between the described groups of hypergonadotrophic patients. These findings demonstrate a time-dependent increase in the 'second pool' of LH following orchidectomy. The similar behaviour of stimulated LH-release in healthy women and in male patients with long-term hypergonadotrophic hypogonadism could indicate an augmented production of endogenous LRH in these individuals as compared to healthy men, providing an explanation for the sexually related differences in the LH-response upon the administration of the LRH-analogue.

Gonadotropins and gonadotropin receptors during the perimenopause

1996 ◽  
Vol 134 (3) ◽  
pp. 357-361 ◽  
Author(s):  
Kimmo K Vihko ◽  
Erkki Kujansuu ◽  
Pertti Mörsky ◽  
Ilpo Huhtaniemi ◽  
Reijo Punnonen
Keyword(s):  
Ovarian Tissue ◽  
Abdominal Hysterectomy ◽  
High Serum ◽  
University Hospital ◽  
Histological Evaluation ◽  
Gonadotropin Receptors ◽  
Lh Receptor ◽  
Serum Lh ◽  
Serum Gonadotropin ◽  
17Β Estradiol

Vihko KK, Kujansuu E, Mörsky P, Huhtaniemi I, Punnonen R. Gonadotropins and gonadotropin receptors during the perimenopause. Eur J Endocrinol 1996;134:357–61. ISSN 0804–4643 Twenty-two perimenopausal patients (aged 47–56 years) admitted for elective abdominal hysterectomy and salpingo-oophorectomy were selected to understand better the clinical significance of increasing gonadotropin levels as an indicator of target organ responsiveness. Prior to anesthesia, blood was drawn from the patients for subsequent analyses of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH) and 17β-estradiol (E2) levels. Ovarian tissue was obtained during surgery and frozen at −70°C for subsequent analyses for FSH and LH receptor content. The phase of the menstrual cycle of the patients or postmenopause was determined by serum gonadotropin and E2 levels and histological evaluation of the endometrium. Patients with no detectable FSH receptors showed significantly higher serum FSH and LH levels (4.7- and 4.3-fold, respectively) when compared to patients with detectable FSH receptors; FSH receptors were present in 27% of the patients, LH receptors were present in 68% of the patients and a negative correlation was found between serum LH levels and ovarian LH receptors. In postmenopausal patients, neither FSH receptors nor LH receptors were detectable. High serum gonadotropin levels in perimenopausal patients thus suggest the existence of low or undetectable ovarian gonadotropin receptor levels. Kimmo Vihko, Department of Obstetrics and Gynecology, Tampere University Hospital, PO Box 2000, FIN-33521 Tampere, Finland

Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus

2019 ◽  
Author(s):  
Hela Marmouch ◽  
Haythem Jenzri ◽  
Houssem Mrabet ◽  
Hamza Fekih ◽  
Ines Khochtali
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Systemic Lupus

Proteomic analysis of human testicular interstitial fluid reflects disordered spermatogenesis in Klinefelter's syndrome

2014 ◽  
Author(s):  
Robert I McLachlan ◽  
Andrew N Stephens ◽  
Adam Rainczuk ◽  
Caroline Foo ◽  
Mark R Condina ◽  
...  
Keyword(s):  
Proteomic Analysis ◽  
Interstitial Fluid ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

Can Testicular Size Be a Predictive Factor for Successful Sperm Retrieval in Patients with Non Obstructive Azoospermia?

2019 ◽  
pp. 1
Author(s):  
Omer Yumusak ◽  
Mehmet Cinar ◽  
Serkan Kahyaoglu ◽  
Yasemin Tasci ◽  
Gul Nihal Buyuk ◽  
...  
Keyword(s):  
Follicle Stimulating Hormone ◽  
Significant Risk ◽  
High Serum ◽  
Testicular Volume ◽  
Testicular Sperm Extraction ◽  
Total Testosterone ◽  
Obstructive Azoospermia ◽  
Testicular Sperm ◽  
Sperm Retrieval ◽  
Stimulating Hormone

<p><strong>Objective:</strong> Non-obstructive azoospermia, defined as absence of spermatozoa in the ejaculate caused by impaired spermatogenesis, is the most severe cause of male infertility. It is typically presented as high serum follicle stimulating hormone levels and atrophic testis. The combination of intracytoplasmic sperm injection and Microdissection testicular sperm extraction allows these infertile men the opportunity to have their own children from their own testis. Our aim was to evaluate the outcomes of micro-Testicular sperm extraction in men with atrophic testis.</p><p><strong>Study Design:</strong> The medical records of 80 non-obstructive men with azoospermia who underwent micro-TESE were retrospectively evaluated. We assessed clinical parameters; age, duration of infertility, smoking, chromosomal karyotype, Y chromosome microdeletion, follicle stimulating hormone, luteinizing hormone, total testosterone and testicular volume in relation with Microdissection testicular sperm extraction results.</p><p><strong>Results:</strong> Testicular sperm retrieval rate was 53% in 80 patients. Testicular volume, serum follicle stimulating hormone and total testosterone concentrations showed correlation with the results of sperm retrieval. These three parameters were found to be significant risk factors with testicular sperm extraction negative patients (p&lt;0.001). The odds ratios (95% CI) were 6.39 (1.25–26.58), 1.24 (1.11-1.36), 1.13 (0.99-1.21) respectively. Testicular volume was found to be a discriminative parameter in patients with negative sperm retrieval. The cut-off point was established as 6.75 ml for testicular volume with 88.1% sensitivity, 62.1% specificity.</p><p><strong>Conclusion:</strong> Microdissection testicular sperm extraction is the most effective procedure for patients with non-obstructive azoospermia. Testicular volume, serum follicle stimulating hormone and testosterone levels can be predictive factors for sperm retrieval in men with non-obstructive azoospermia.</p>

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