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

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-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.

Klinefelter's syndrome. Clinical and laboratory findings in 50 patients

1966 ◽  
Vol 118 (4) ◽  
pp. 314-321 ◽  
Author(s):  
K. L. Becker
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Laboratory Findings

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

scholarly journals Klinefelter's Syndrome (XXXXY Variant)

1964 ◽  
Vol 57 (9) ◽  
pp. 842-842 ◽  
Author(s):  
S Blatch ◽  
H M T Coles
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

scholarly journals A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Dan Li ◽  
Yun Wang ◽  
Nan Zhao ◽  
Liang Chang ◽  
Ping Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Karyotype Analysis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Comparative Genomic ◽  
Klinefelter’S Syndrome ◽  
Mechanism Analysis ◽  
Klinefelter's Syndrome ◽  
Preimplantation Genetic Testing ◽  
First Case

Abstract Background Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. Case presentation Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After microarray-based comparative genomic hybridization (array-CGH) for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR), two embryos were balanced, one balanced embryo was implanted and the patient successfully achieved pregnancy. Amniocentesis was performed at the 19th week of gestation for karyotype analysis and single nucleotide polymorphism (SNP)-array test. The result of karyotype analysis was: mos 47, XXY [19]/46, XY [81]; SNP-array results revealed 46, XY, iUPD (9) pat. After full genetic counseling for mosaic Klinefelter’s syndrome and paternal iUPD (9), the couple decided to continue pregnancy, and the patient gave birth to a healthy boy. The newborn is now 3.5 years old, and developed normally. This case will provide counseling evidences of paternal iUPD (9) for doctors. Conclusions This is the first case report of paternal iUPD9 with mosaic Klinefelter’s syndrome, and no abnormality has been observed during the 3.5-year follow-up. Further observation is required to determine whether the imprinted genes on the chromosomes are pathogenic and whether recessive pathogenetic genes are activated.

Restrictive Defect in Klinefelter's Syndrome

CHEST Journal ◽  
1982 ◽  
Vol 82 (1) ◽  
pp. 132 ◽  
Author(s):  
Basil Varkey ◽  
Akira Funahashi
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Restrictive Defect

TWINS, TRIPLETS AND KLINEFELTER'S SYNDROME

1969 ◽  
Vol 44 (s209) ◽  
pp. 161-168
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

scholarly journals Incontinentia pigmenti in a boy with Klinefelter's syndrome.

1987 ◽  
Vol 24 (7) ◽  
pp. 439-441 ◽  
Author(s):  
A D Ormerod ◽  
M I White ◽  
E McKay ◽  
A W Johnston
Keyword(s):  
Incontinentia Pigmenti ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome
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