Primary aldosteronism in Klinefelter’s syndrome: two cases

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

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.

Related collections

Most cited references 10

Record: found
Abstract: found
Article: not found

The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline.

John Funder, Robert Carey, Franco Mantero … (2016)

To develop clinical practice guidelines for the management of patients with primary aldosteronism.

0 comments Cited 920 times – based on 0 reviews      Review now

Record: found
Abstract: not found
Article: not found

Obesity as a Key Factor Underlying Idiopathic Hyperaldosteronism

Youichi Ohno, Masakatsu Sone, Nobuya Inagaki … (2018)

0 comments Cited 29 times – based on 0 reviews      Review now

Record: found
Abstract: found
Article: not found

Elevated expression of luteinizing hormone receptor in aldosterone-producing adenomas.

Karla Saner Amigh, William E. Rainey, Franco Mantero … (2006)

The mechanisms driving steroid production in aldosterone-producing adenomas (APAs) are poorly defined. However, previous studies have shown that steroid production in some cortisol-producing adenomas is regulated by aberrant expression of G protein-coupled receptors. Aberrant adrenal expression of LH receptors has been shown to cause Cushing's syndrome, but the role of LH receptors in Conn's disease (hyperaldosteronism) has not been studied. The objective of the study was to determine whether APAs express elevated LH receptor, compared with normal adrenal (NA). Pools of RNA from NA and APAs were hybridized to oligonucleotide microarrays. Data were confirmed using real-time RT-PCR analysis of RNA derived from NA (n = 20) and APAs (n = 18). Aldosterone synthase transcription was studied in H295R adrenocortical cells transfected with an LH receptor expression construct and reporter constructs prepared from CYP11B2 5'-flanking DNA. The patient population consisted of 20 normal control adrenals and 18 adenomas from patients with APAs. Regulation of CYP11B2 gene expression by aberrant LH receptor expression in aldosterone-producing adrenal adenoma was measured. LH/choriogonadotropin receptor gene and CYP11B2 are indicated as having greater than 25-fold expression in one pool of APA mRNA samples over NA using microarray analysis. Real-time RT-PCR analyses indicated that one APA sample (APA-LH receptor) exhibited more than 2400-fold elevation in LH receptor expression over NA. Examination of LH receptor mRNA levels in 18 independent APA samples indicated elevated expression in nine samples when compared with NA. In H295R cells transfected with LH receptor, LH treatment caused a concentration-dependent increase in CYP11B2 reporter activity. LH receptor expression is elevated in many APAs, which makes LH a potential cause of the excessive production of aldosterone in a subset of these adrenal tumors.

0 comments Cited 25 times – based on 0 reviews      Review now

All references

Author and article information

Journal

Journal ID (nlm-ta): Endocrinol Diabetes Metab Case Rep

Journal ID (iso-abbrev): Endocrinol Diabetes Metab Case Rep

Journal ID (hwp): EDM

Title: Endocrinology, Diabetes & Metabolism Case Reports

Publisher: Bioscientifica Ltd (Bristol )

ISSN (Electronic): 2052-0573

Publication date (Electronic): 28 November 2019

Publication date Collection: 2019

Volume: 2019

Electronic Location Identifier: 19-0126

Affiliations

[1 ]Departments of Endocrinology and Hypertension , Tokyo, Japan

[2 ]Departments of Diagnostic Imaging and Nuclear Medicine , Tokyo, Japan

[3 ]Departments of Urology, Kidney Center , Tokyo, Japan

[4 ]Departments of Surgical Pathology, Tokyo Women’s Medical University , Tokyo, Japan

Author notes

Correspondence should be addressed to S Morimoto; Email: morimoto.satoshi@ 123456twmu.ac.jp

Article

Publisher ID: EDM190126

DOI: 10.1530/EDM-19-0126

PMC ID: 6935713

PubMed ID: 31841437

SO-VID: e9584ef6-8ab6-4d4e-9144-5d11b643ef04

License:

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

History

Date received : 15 November 2019

Date accepted : 28 November 2019

Categories

Subject: Adult

Subject: Male

Subject: Asian - Japanese

Subject: Japan

Subject: Adrenal

Subject: Aldosterone

Subject: Fsh

Subject: Lh

Subject: Testosterone

Subject: Cortisol

Subject: Hypogonadism

Subject: Hypertension

Subject: Klinefelter Syndrome

Subject: Hyperaldosteronism

Subject: Adrenocortical Adenoma

Subject: Incidentaloma

Subject: Hypokalaemia

Subject: Hypertension

Subject: Hypogonadism

Subject: Obesity

Subject: Gynaecomastia

Subject: Hypokalaemia

Subject: LH

Subject: Aldosterone (plasma)

Subject: Aldosterone to renin ratio

Subject: Renin plasma activity

Subject: Adrenal venous sampling

Subject: Testosterone

Subject: Chromosomal analysis

Subject: Immunohistochemistry

Subject: CT scan

Subject: Blood pressure

Subject: BMI

Subject: Potassium

Subject: Captopril challenge test*

Subject: Furosemide upright test*

Subject: FSH

Subject: Dexamethasone suppression

Subject: Cortisol (plasma)

Subject: Saline infusion test*

Subject: Haematoxylin and eosin staining

Subject: Laparoscopic adrenalectomy

Subject: Amlodipine

Subject: Doxazosin

Subject: Alpha-blockers

Subject: Furosemide

Subject: Nifedipine

Subject: Eplerenone

Subject: Testosterone enanthate esters

Subject: Telmisartan*

Subject: Cilnidipine*

Subject: Insight into Disease Pathogenesis or Mechanism of Therapy

Keywords: adult,male,asian - japanese,japan,adrenal,aldosterone,fsh,lh,testosterone,cortisol,hypogonadism,hypertension,klinefelter syndrome,hyperaldosteronism,adrenocortical adenoma,incidentaloma,hypokalaemia,obesity,gynaecomastia,aldosterone (plasma),aldosterone to renin ratio,renin plasma activity,adrenal venous sampling,chromosomal analysis,immunohistochemistry,ct scan,blood pressure,bmi,potassium,captopril challenge test*,furosemide upright test*,dexamethasone suppression,cortisol (plasma),saline infusion test*,haematoxylin and eosin staining,laparoscopic adrenalectomy,amlodipine,doxazosin,alpha-blockers,furosemide,nifedipine,eplerenone,testosterone enanthate esters,telmisartan*,cilnidipine*,insight into disease pathogenesis or mechanism of therapy,december,2019

Data availability:

Keywords: adult, male, asian - japanese, japan, adrenal, aldosterone, fsh, lh, testosterone, cortisol, hypogonadism, hypertension, klinefelter syndrome, hyperaldosteronism, adrenocortical adenoma, incidentaloma, hypokalaemia, obesity, gynaecomastia, aldosterone (plasma), aldosterone to renin ratio, renin plasma activity, adrenal venous sampling, chromosomal analysis, immunohistochemistry, ct scan, blood pressure, bmi, potassium, captopril challenge test*, furosemide upright test*, dexamethasone suppression, cortisol (plasma), saline infusion test*, haematoxylin and eosin staining, laparoscopic adrenalectomy, amlodipine, doxazosin, alpha-blockers, furosemide, nifedipine, eplerenone, testosterone enanthate esters, telmisartan*, cilnidipine*, insight into disease pathogenesis or mechanism of therapy, december, 2019

The flagship journal of the Society for Endocrinology. Learn more