Primary hyperparathyroidism and Klinefelter's syndrome in a young man

Summary We report the association of primary hyperparathyroidism (PHPT) and Klinefelter's syndrome (KS) in a 22-year-old male complaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemia and osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a single adenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rare association are discussed. Learning points The coexistence of KS and PHPT is very uncommon. Patients with mild PHPT often have nonspecific symptoms that may be confused and superimposed with those of hypogonadism. KS patients, especially when young and already osteoporotic at diagnosis, should be screened for other causes of secondary osteoporosis, in particular PHPT.

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Síndrome de Klinefelter con deficiencia parcial de hormona de crecimiento.

Revista Medica Herediana ◽

10.20453/rmh.v10i1.2387 ◽

2015 ◽

Vol 10 (1) ◽

pp. 38

Author(s):

Carlos TORI TORI ◽

Carlos ROE B.

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Short Stature ◽

Klinefelter Syndrome ◽

Bone Age ◽

Hormone Deficiency ◽

Klinefelter’S Syndrome ◽

Klinefelter's Syndrome ◽

The Third ◽

Rare Association

We present a case of Klinefelter’s syndrome and short stature due to partial growth hormone deficiency. His height was below the third percentile for age and his bone age lagged behind four years. Cases like this are generally due to the presence of a an isochromosome Xq or to an isolated partial or total deficiency of growth hormone, or to partial or panhypopituitarism. We wish de emphasize the rare association between Klinefelter syndrome and growth hormone deficiency.

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Primary aldosteronism in Klinefelter’s syndrome: two cases

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-19-0126 ◽

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.

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Isolated hypophosphataemia as an early marker of primary hyperparathyroidism

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-20-0217 ◽

2021 ◽

Vol 2021 ◽

Author(s):

John Alexander ◽

Dinesh Nagi

Keyword(s):

Primary Hyperparathyroidism ◽

List Type ◽

Biochemical Abnormality ◽

Common Presentation ◽

Long Term Monitoring ◽

Biochemical Testing ◽

Term Monitoring ◽

Learning Points ◽

Biochemical Abnormalities

Summary Primary hyperparathyroidism (PHPT) is a disease caused by overactive parathyroid glands with consequent hypercalcaemia. The main cause in 85–90% of the cases is the presence of a solitary parathyroid adenoma. The most common presentation is with asymptomatic hypercalcaemia diagnosed on routine biochemical testing. Although low serum phosphate levels are an associated finding in primary hyperparathyroidism, the diagnostic criteria for PHPT remain to be hypercalcaemia, high or inappropriately normal PTH and hypercalciuria. This case report presents a patient who presented with low phosphate levels without any other biochemical evidence of PHPT, who returned several years later with overt primary hyperparathyroidism. This report intends to raise interest among the medical fraternity whether there is a need to consider hypophosphataemia as an early sign of PHPT. Learning points Primary hyperparathyroidism is a relatively common condition with varying clinical and biochemical presentation. The most common presentations still remain as an asymptomatic biochemical abnormality closely related to calcium, PTH and bone metabolism. Not much attention is usually given to associated biochemical abnormalities, and hence they are usually less investigated. Further research is needed to establish if patients need long-term monitoring when no obvious cause for isolated hypophosphataemia has been found.

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A rare ophthalmic condition associated with primary hyperparathyroidism (PHPT): sclerochoroidal calcification (SC)

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-19-0003 ◽

2019 ◽

Vol 2019 ◽

Author(s):

Mona Abouzaid ◽

Ahmed Al-Sharefi ◽

Satish Artham ◽

Ibrahim Masri ◽

Ajay Kotagiri ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Observational Studies ◽

Systemic Disease ◽

List Type ◽

Long Term Follow Up ◽

Eye Examination ◽

Learning Points ◽

True Association

Summary An 82-year-old male with a proven diagnosis of primary hyperparathyroidism (PHPT) was found to have bilateral changes in the fundi during a routine eye examination which were consistent with SC. In this report, we discuss the link between SC and PHPT and question the need for prospective observational studies to establish the true association between these conditions. Though screening PHPT patients for SC might not be justified/warranted given the benign course of the latter, patients with SC need to be assessed for PHPT, as the former may be the first clue to an underlying treatable systemic disease. Learning points: Sclerochoroidal calcifications (SCs), though rare and harmless, could be associated with an underlying systemic disease, such as primary hyperparathyroidism (PHPT). Biochemical screening for hypercalcaemia is a simple, cheap and widely available tool that could facilitate an identification of undiagnosed PHPT in patients with SC. A joint care by endocrinologists and ophthalmologists is warranted for those patients, as thorough investigations and long-term follow-up plans are crucial.

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Recurrent primary hyperparathyroidism: a diagnostic and management dilemma

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-20-0136 ◽

2021 ◽

Vol 2021 ◽

Author(s):

Ben Wilkinson ◽

Sharifah Faradila Wan Muhamad Hatta ◽

Andrew Garnham ◽

Harit N Buch

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Surgical Planning ◽

List Type ◽

Viable Option ◽

Surgical Recurrence ◽

Adenomatous Tissue ◽

Diagnostic Modalities ◽

Learning Points

Summary Primary hyperparathyroidism requires a surgical approach to achieve a long-term cure. However, post-surgical recurrence significantly complicates the management of this condition. A number of causes for recurrent disease are well understood and several diagnostic modalities exist to localise the culprit parathyroid adenoma although none of them is efficacious in localisation of the recurrent lesion. In this case report, we highlight a novel causative mechanism and describe a unique diagnostic sequence that enabled curative treatment to be delivered. Learning points In the case described herein, we describe a novel location for a parathyroid adenoma causing recurrent PHPT. The case elucidates well the difficulties presented by such cases in terms of surgical planning and show the utility of PVS in such cases. Based on this case, we make the following recommendations: Meticulous care must be taken to prevent seeding of adenomatous tissue during primary excision. To consider the use of PVS in patients with discordant imaging in the setting of recurrent/persistent PHPT as a method to localise the causative adenoma. Same day PVS and surgery is a viable option for patients who either represent an anaesthetic risk or who are extremely anxious about the prospect of two separate procedures. Disordered calcium homeostasis is an important but forgotten cause of dysphagia which can be extremely debilitating for affected patients.

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Rare association of insulin autoimmune syndrome with ankylosing spondylitis

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-15-0090 ◽

2015 ◽

Vol 2015 ◽

Cited By ~ 2

Author(s):

Nishant Raizada ◽

S H Rahaman ◽

D Kandasamy ◽

V P Jyotsna

Keyword(s):

Ankylosing Spondylitis ◽

Serum Insulin ◽

High Serum ◽

List Type ◽

Rare Association ◽

Insulin Autoimmune Syndrome ◽

Autoimmune Syndrome ◽

Learning Points ◽

Very High ◽

Hyperinsulinemic Hypoglycaemia

Summary Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia, which is known to occur in association with the use of sulfhydryl-containing drugs and autoimmune disorders. We describe a patient with hitherto an unreported association of IAS with ankylosing spondylitis. We have also performed and described a simplified method of polyethylene glycol (PEG) precipitation of an insulin bound antibody in the serum. Learning points IAS should be considered in differential diagnosis of endogenous hyperinsulinemic hypoglycaemia. Ankylosing spondylitis can be associated with IAS apart from several other autoimmune diseases. Very high serum insulin levels (100–10 000 μU/ml) are frequently seen in IAS. When faced with very high serum insulin before suspecting insulinoma, it is advisable that PEG precipitation of serum be done to identify antibody bound insulin. A clinical suspicion of IAS can avoid expensive imaging and unnecessary surgery in affected patients.

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

Archives of Internal Medicine ◽

10.1001/archinte.118.4.314 ◽

1966 ◽

Vol 118 (4) ◽

pp. 314-321 ◽

Cited By ~ 10

Author(s):

K. L. Becker

Keyword(s):

Klinefelter’S Syndrome ◽

Klinefelter's Syndrome ◽

Laboratory Findings

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PARATHYROID HORMONE SECRETION IN DISORDERS OF CALCIUM METABOLISM STUDIED BY MEANS OF EDTA

Acta Endocrinologica ◽

10.1530/acta.0.0750286 ◽

1974 ◽

Vol 75 (2) ◽

pp. 286-296 ◽

Cited By ~ 10

Author(s):

J. H. Lockefeer ◽

W. H. L. Hackeng ◽

J. C. Birkenhäger

Keyword(s):

Parathyroid Hormone ◽

Primary Hyperparathyroidism ◽

Calcium Metabolism ◽

Hormone Secretion ◽

Parathyroid Tissue ◽

Small Mass ◽

Idiopathic Hypercalciuria ◽

List Type ◽

Immunoreactive Parathyroid Hormone ◽

Pth Level

ABSTRACT In 22 of 28 cases of primary hyperparathyroidism (PHP) the rise in the serum immunoreactive parathyroid hormone (IRPTH or PTH) level observed in response to lowering of the serum calcium by EDTA, exceeded that obtained in 8 control subjects. In 5 of these 22 patients who were studied again after parathyroidectomy the supranormal response was abolished. Fifteen of these 22 hyper-responsive PHP patients had basal IRPTH levels not exceeding the highest level in the controls and that of other groups of patients investigated (idiopathic hypercalciuria, non-parathyroid hypercalcaemia, operated PHP). Fourteen of the 22 hyper-reactive patients with PHP did not show hypocalcaemia during the infusion of EDTA. The extent of the release of PTH elicited by EDTA in cases of PHP does not as yet allow a prediction of the amount of pathological parathyroid tissue present, although all the PHP patients showing a normal release of PTH had a relatively small mass of parathyroid tissue (up to about 1 g) subsequently removed. In 9 cases of nephrolithiasis (8 of whom had idiopathic hypercalciuria) and in 7 cases of non-parathyroid hypercalcaemia, a normal PTH release was found.

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