Spontaneous Resolution of Primary Hyperparathyroidism Following COVID-19 Infection

Abstract Background: Spontaneous resolution of primary hyperparathyroidism (PHPT) is extremely rare, and has previously been reported exclusively in the setting of apoplexy (auto-infarction) of a large parathyroid adenoma outgrowing its blood supply. We report an unusual case of spontaneous PHPT resolution after Covid-19 infection. Clinical Case: A 38-year-old Hispanic woman was seen in clinic for evaluation of hypercalcemia first noted on routine bloodwork in 2018. She had a history of nephrolithiasis (1 episode) but no other symptom associated with hypercalcemia. She was not on medications associated with hypercalcemia, and had no family history of Ca disorder. Serum biochemistry was notable for hypercalcemia (Ca: 10.9, 10.5, and 10.8 mg/dL, nl 8.4–10.2), normal albumin and Cr, elevated PTH (106 and 70 pg/mL, nl 15–65), with low phosphate (2.3 mg/dL, nl 2.4–4.5) and 25-OH-Vit. D (14 ng/mL, nl 20–80). 24-hr urinary studies showed elevated urine Ca (285 and 375 mg/day, nl 100–250), with urine Cr of 1.3 and 1.5 g/day, respectively. Findings of hypercalcemia, hypercalciuria, and elevated serum PTH, led to the diagnosis of PHPT. Neck ultrasound and sestamibi scan of the parathyroids with SPECT-CT did not localize any abnormal parathyroid gland. A month after PHPT diagnosis, and prior to surgical evaluation, patient presented with a 9-day history of fever, cough, and shortness of breath. She tested positive for Covid-19 infection by SARS-CoV-2 PCR on nasal swab, and was quarantined at home with symptomatic treatment. No glucocorticoids were given. Serum Ca was normal (9.5 mg/dL) at the time of Covid-19 diagnosis. All Covid-19 symptoms subsided 14 days after onset. Repeat labs 1 and 3 months after Covid-19 infection showed persistently normal serum Ca (10.0 and 9.8 mg/dL), with low then normal PTH (13 and 43 pg/mL), compatible with spontaneous resolution of PHPT. Patient denied any neck discomfort before, during, or after Covid-19 infection. Spontaneous resolution of PHPT is rare and follows apoplexy of a large parathyroid adenoma. In our patient, imaging failed to localize a large parathyroid adenoma, making it less likely that resolution of her PHPT was caused by apoplexy. Resolution of PHPT temporally coincided with Covid-19 infection, although the link between the two conditions is unclear at this time. Hypothesized mechanisms include an imbalance in the normal PTH-Ca axis caused by SARS-CoV-2 mediated release of inflammatory cytokines (e.g. interferon, previously reported to lower serum calcium), or development of antibodies against the parathyroid or CaSR. RNA and protein expression of ACE2, the SARS-CoV-2 cell receptor gene, is not detected in normal parathyroid tissue. Conclusion: To our knowledge, this is the first reported case of spontaneous resolution of PHPT after Covid-19 infection. Further studies are needed to understand the frequency of this occurrence, and the underlying mechanism.

Download Full-text

SAT-353 Familial Hyperparathyroidism - Due to a Rare Genetic Mutation

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.470 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Adeyinka Taiwo ◽

Joseph Stephen Dillon ◽

Jennifer Stinson

Keyword(s):

Family History ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Gene Mutation ◽

Parathyroid Tissue ◽

Clinical Manifestations ◽

Young Age ◽

Parathyroid Cancer ◽

History Of ◽

Familial Hyperparathyroidism

Abstract Introduction: Hyperparathyroidism occurs most commonly in middle age patients, predominantly in women. It can be caused by parathyroid adenoma, hyperplasia or parathyroid carcinoma. Genetic predisposition can be found in about 10% of primary hyperparathyroidism due to certain gene mutations. This case emphasizes the importance of taking a detailed family history when patients present with hyperparathyroidism at a young age, so that familial hyperparathyroidism, if present, can be detected and relatives screened. Clinical case: A 26 y.o. male presented with symptoms of fatigue and polydipsia for several years. He was noted to have a serum calcium of 12.4 mg/dL(8.5–10.5), with parathyroid hormone of 213 pg/ml (15–65). He denied any history of kidney stones, fractures and no palpable neck masses. The patient’s family history was significant for his paternal half-sister who had parathyroidectomy for hyperparathyroidism at 20yrs old and paternal grandmother died of parathyroid cancer in her 50s. The patient’s father died of pancreatic cancer at 41yrs old. A neck ultrasound revealed a mass posterior to the left inferior thyroid. A Sestamibi parathyroid scan revealed a parathyroid adenoma at the posteroinferior aspect of the left hemithyroid. Labs for free metanephrines and normetanephrine, prolactin and gastrin levels were all normal. Due to his young age and the possibility of having familial hyperparathyroidism, he underwent bilateral neck exploration and parathyroidectomy, with removal of his left inferior, right superior, left superior parathyroid glands and left upper thymus. Surgical pathology revealed, hypercellular parathyroid tissue. Post operatively, his calcium and vitamin D remained within the normal range. Genetic studies revealed a mutation in the parafibromin gene - CDC73 (also called HRPT2), a tumor suppressor gene, which is on chromosome 1q25. The patient currently has 6 children ranging from age 5 months to 6 years. He was advised to have his children tested any time from age 7 years for the gene mutation. The patient has remained stable 4yrs post operatively, with normal calcium and PTH levels. He does not have any history of jaw tumor. He never had an ultrasound kidney done. He is being monitored with yearly lab tests. Conclusion: CDC73 gene mutation-associated disorders are inherited as an autosomal dominant fashion, with variable penetrance. This gene mutation can be found in conditions such as hyperparathyroidism jaw tumor, familial hyperparathyroidism and parathyroid cancer. Reference: 1. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534–4540.

Download Full-text

A Challenging Diagnosis of Primary Hyperparathyroidism in an Adolescent Female

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.354 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A175-A175

Author(s):

Patricia Vining-Maravolo ◽

Ethel Clemente ◽

Berrin Ergun-Longmire

Keyword(s):

Abdominal Pain ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Serum Calcium ◽

Parathyroid Tissue ◽

Gastrointestinal Symptoms ◽

Vital Signs ◽

Normal Thyroid Function ◽

Sestamibi Scan ◽

History Of

Abstract Background: Hypercalcemia secondary to primary hyperparathyroidism (PHPT) is less common in children than adults. Single parathyroid adenoma is commonly the cause of primary hyperparathyroidism in children. Clinical Case: We present a 15-year-old female with one-week history of abdominal pain despite taking over the counter antacids. Her initial work up by her primary care provider revealed serum calcium of 11.8 mg/dL (9.0–11.5) and creatinine of 0.8 mg/dL (0.4–1.2). A week later, she presented to the emergency department with same complaint. In ED, she was found to have hypercalcemia (12.8 mg/dl) with elevated parathyroid hormone (PTH) at 78.5 pg/mL (15–65). Her random urine calcium creatinine ratio was high at 2.1. Her 25OHD was 25 ng/mL (30–100). She had negative urine pregnancy test but had trace ketones, leukocyte esterase, blood and bacteria. CBC and CMP were otherwise unremarkable. She continued to complain abdominal pain with nausea, decrease appetite, fatigue, and general muscle weakness. There was no known family history of calcium or metabolic bone disorders. Her vital signs and physical exam were normal. Subsequent labs showed mild improvement of calcium between (11–12.3 mg/dL), PTH between 54.5 and 77 pg/mL, normal thyroid function. Ionized calcium was mildly elevated 6.0 mg/dL (4.5–5.3) but her repeat 25OHD was low at18 ng/mL. Serum phosphorus levels were relatively normal with lowest level of 2.5 mg/dL (2.7–4.5). Gliadin Deamidated IgA was detectable 15 U/mL (< 15.0 U/). Ultrasound of abdomen was significant for nonspecific mild hepatomegaly; kidneys were normal in size and appearance. Ultrasound of thyroid was significant for probably intrathyroid parathyroid, measuring 6 x 8 x 8 mm. Tc-Sestamibi scan did not confirm a parathyroid adenoma. Genetic testing for MEN-1 was negative. FHH- related genes (i.e. CASR) was positive for p.R990G variant resulting in a mild gain of function of the calcium-sensing receptor. Although previous Tc-Sestamibi scan was unremarkable, an over read of it raised a concern for questionable uptake in the left superior lobe. SPEC-CT demonstrated possible abnormal parathyroid tissue in the upper pole of the left thyroid. FNA of the left thyroid nodule confirmed likely intrathyroidal parathyroid adenoma. Subsequent follow up and treatment, including parathyroidectomy, was done by another institution. She underwent a left parathyroidectomy with normalization of serum calcium and PTH levels post operatively (10.1 mg/dl and 8 pg/mL, respectively) and has complete resolution of her previous abdominal and gastrointestinal symptoms. Conclusion: PHPT is uncommon in children and adolescents and is typically associated with a single parathyroid adenoma. High index of suspicion is key for early diagnosis of PHPT despite a negative Tc-Sestamibi initially.

Download Full-text

Video-assisted thoracoscopic surgery for primary hyperparathyroidism with ectopic parathyroid adenoma in thymus

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh200529042j ◽

2021 ◽

pp. 42-42

Author(s):

Radoica Jokic ◽

Jelena Antic ◽

Ivana Vorgucin ◽

Mila Stajevic ◽

Zoran Nikin ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Bone Fractures ◽

Thoracoscopic Surgery ◽

Parathyroid Tissue ◽

Normal Serum ◽

Video Assisted ◽

Ectopic Parathyroid ◽

Mediastinal Parathyroid ◽

Video Assisted Thoracoscopic Surgery

Introduction. Primary hyperparathyroidism (PHPT) is rare pathology in children (2-5:100,000). In more than 85% of patients, a single adenoma is present, and its extirpation is usually the only treatment a patient needs. In approximately 15-80%of cases, ectopic mediastinal parathyroid tissue can be found inside the thymus. Case outline. Our patient was a 13-year-old boy, who presented with multiple bone fractures in the previous period of time, and fatigue. PTH levels preoperatively were extremely high (1320 pg/ml - more than 19 times higher than normal). Serum calcium was also elevated (total 3.55 mmol/l; ionized 1.41 mmol/l). He was examined and diagnosed as PHPT by a pediatric endocrinologist. Imaging procedures for the preoperative localization of parathyroid adenomas were done (99mTc sestamibi scintigraphy and MRI suggested ectopic mediastinal parathyroid adenoma). The patient underwent video-assisted thoracoscopic surgery procedure. After exploration of the mediastinum and chest, no ectopic parathyroid tissue was found, so total thoracoscopic thymectomy was performed. Final pathological section confirmed parathyroid adenoma inside the thymus. Conclusion. We believe that if no parathyroid tissue is found during surgical exploration of mediastinum, in a child with preoperatively detected parathyroid adenoma in anterior mediastinum, recommendation is to think about possible intrathymal localization and consider removing the thymus. Greater sample size is necessary for higher reliability of this statement.

Download Full-text

Primary Hyperparathyroidism due to Parathyroid adenoma presenting as recurrent acute pancreatitis

Asian Journal of Medical Sciences ◽

10.3126/ajms.v8i1.15985 ◽

2017 ◽

Vol 8 (1) ◽

pp. 98-100

Author(s):

Tarun J George ◽

Pughazhendhi Thangavelu ◽

S Zahir Hussain ◽

MP Kumaran ◽

Kini Ratnakar ◽

...

Keyword(s):

Acute Pancreatitis ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Elevated Serum ◽

Surgical Excision ◽

Medical Sciences ◽

Thyroid Lobe ◽

Recurrent Acute Pancreatitis ◽

Hypoechoic Nodule ◽

Left Thyroid Lobe

Primary hyperparathyroidism (PHPT) due to parathyroid adenoma presenting as recurrent acute pancreatitis is a rare entity. A 17-year-old male presented with recurrent attacks of pancreatitis and was found to have elevated serum calcium and Parathyroid hormone levels, 11.9mg/dL (8.5-10.2 mg/dL) and 396 pg/ml (10-65pg/ml) respectively. USG neck showed a 1.1 x 0.9 cm hypoechoic nodule in the superior aspect of left thyroid lobe. Parathyroid scintigraphy findings were consistent with parathyroid adenoma. After recovery of pancreatitis, surgical excision of the adenoma was done and the histopathological findings confirmed parathyroid adenoma. There were no further recurrence of pancreatitis following the excision.Asian Journal of Medical Sciences Vol.8(1) 2017 98-100

Download Full-text

SAT-380 A Case of Primary Hyperparathyroidism on the Third Trimester of Pregnancy

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1884 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Maria Alexandra Carranceja Villapol ◽

Maria Princess L Kanapi

Keyword(s):

Blood Pressure ◽

Abdominal Pain ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Elevated Serum ◽

Stable Condition ◽

Abdominal Ultrasound ◽

Pressure Control ◽

Ibandronic Acid ◽

The Right

Abstract Introduction: This is the case of a pregnant woman on her 3rd trimester who was diagnosed with primary hyperparathyroidism. Since there are two patients involved, the potential complications that can be brought about by the diagnostic tests and the treatment had to be weighed against the benefits. Case: The patient is SA, a 34-year old female on her 29th week of pregnancy, admitted due to a month history of abdominal pain described as intermittent, crampy, generalized, non-radiating, and mild-to-moderately severe in intensity. She was advised to do tests but did not comply. In the interim, there was recurrence of symptoms but with resolution. However, the crampy abdominal pain recurred, now localized at the right upper quadrant and epigastric areas, radiating to the right upper back, moderate in intensity, and with associated nausea and vomiting, leading to admission. She was first managed under OB-Gynecology, given hydration, pain management and Betamethasone. She was also referred to Cardiology for blood pressure control, and Surgery for evaluation of the abdominal pain. Due to an increasing trend of her blood glucose, she was referred to Endocrinology and started on insulin. Mild bilateral nephrocalcinoses seen in an abdominal ultrasound prompted work-up showing an elevated serum ionized calcium at 1.88 meq/L (n 1.12-1.32 meq/L), elevated intact PTH at 451.13 pg/ml (n <67.9 pg/ml), and low Vitamin D at 10.96 ng/ml (n >30ng/ml). Parathyroid ultrasound showed nonthyroidal tissue measuring 0.4 x 0.6 cm at the right inferior area. Saline hydration and diuresis with Furosemide were started to manage the hypercalcemia. A multi-disciplinary meeting was held to discuss the options for management and risks involved. The goal was to deliver the baby in stable condition possibly to term, while keeping maternal calcium levels and blood pressure normal. However on her 30th week of gestation, she had persistent elevated blood pressure and underwent emergency caesarian section. After delivery, the patient was advised against breastfeeding for adequate management of her hypercalcemia. She was started on Cinacalcet, Calcitonin, and Ibandronic Acid. A Parathyroid Sestamibi Scan done showed a parathyroid adenoma on the right inferior lobe, and she underwent right inferior parathyroidectomy, with left thyroidectomy and isthmusectomy. Findings showed a right inferior parathyroid adenoma and a benign follicular nodule on the left thyroid. She was started on Calcium Carbonate and Calcitriol, and discharged stable. Conclusions: This case shows that when two lives are at stake every step of the management, whether diagnostic or therapeutic, must be communicated well to the patient and to the other members of the team. It is ultimately a choice made by the expectant mother but through the proper guidance and updated knowledge of the team, combined with a good clinical eye especially in the treatment of pregnant women.

Download Full-text

Defective binding of the third component of complement (C3) to Streptococcus pneumoniae in multiple myeloma

Blood ◽

10.1182/blood.v63.4.949.949 ◽

1984 ◽

Vol 63 (4) ◽

pp. 949-957 ◽

Cited By ~ 28

Author(s):

BD Cheson ◽

HS Walker ◽

ME Heath ◽

RJ Gobel ◽

J Janatova

Keyword(s):

Multiple Myeloma ◽

Streptococcus Pneumoniae ◽

Elevated Serum ◽

Normal Serum ◽

Complement C3 ◽

Complement Pathway ◽

Serum Factors ◽

Increased Risk ◽

History Of ◽

Type 3

Abstract Patients with multiple myeloma (MM) are at an increased risk for infections with bacteria that require opsonization with complement. Because Streptococcus pneumoniae is the most frequently encountered pathogen in these patients, we investigated the ability of serum from patients with MM to mediate the binding of C3b, the major opsonin of the complement system, to S. pneumoniae. S. pneumoniae types 3, 14, and 25 were chosen for study, since S. pneumoniae type 3 activates primarily the classical complement pathway (CCP), type 25 primarily the alternative complement pathway (ACP), and type 14 both pathways. S. pneumoniae were treated with normal serum or serum from 17 patients with MM, and the bound C3b was quantified with fluorescein-conjugated anti-C3 in a spectrophotofluorometric assay. Despite normal or elevated serum concentrations of C3, total hemolytic complement, and C-reactive protein in all of the MM sera, factor B in 16/17 such sera, and C4 in 14/17 MM sera studied, all 17 sera demonstrated a defect in C3b binding to type 3 (32.7% +/- 6% of normal). In addition, serum from 15/17 patients bound decreased amounts of C3b to types 14 (39.6% +/- 8%) and 25 (52.2% +/- 8%). Mixing normal serum with MM serum restored MM C3b binding activity to all three S. pneumoniae types, suggesting that the defect was related to a deficiency rather than an inhibitor of C3 activation. Although MM patients are unable to produce specific antibodies to bacterial antigens, the addition of anti-S. pneumoniae antibodies to MM serum did not enhance C3b binding to any of the S. pneumoniae types. However, when S. pneumoniae were opsonized in a mixture of MM serum and C3-depleted normal serum, C3b binding was restored to all three S. pneumoniae types, demonstrating that MM C3 functions normally in the presence of other normal serum factors. In the present studies, the MM C3b binding defect appeared to correlate with the incidence of S. pneumoniae infections. Serum from patients with a history of an S. pneumoniae infection bound significantly less C3 (20.5% +/- 4%) than those study patients without a history of an S. pneumoniae infection (55.8% +/- 8%) (p less than 0.0025). Thus, MM serum has a defect in the activation of C3, and this may contribute to the increased susceptibility of MM patients to S. pneumoniae infections.

Download Full-text

Incidental Parathyroid Disease during Thyroid Surgery: Should We Remove Them?

ISRN Surgery ◽

10.5402/2011/962186 ◽

2011 ◽

Vol 2011 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

S. Helme ◽

A. Lulsegged ◽

P. Sinha

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Gland ◽

Thyroid Surgery ◽

Parathyroid Tissue ◽

Neck Surgery ◽

Safe Procedure ◽

Preclinical Phase ◽

Abnormal Parathyroid Gland ◽

Parathyroid Disease ◽

History Of

Aim. Despite an incidence of parathyroid “incidentalomas” of 0.2%–4.5%, only approximately 135 cases have been reported in the literature. We present eight patients in whom an incidental abnormal parathyroid gland was found during routine thyroid surgery. We have reviewed the literature and postulate whether these glands could represent further evidence of a preclinical stage of primary hyperparathyroidism. Methods. A retrospective analysis of all 236 thyroid operations performed by a single surgeon was performed to identify patients in whom abnormal parathyroid tissue was removed at surgery. Results. 8/236 patients (3.39%) had a single macroscopically abnormal parathyroid gland removed and sent for analysis. Seven patients were found to have histological evidence of a parathyroid adenoma or hyperplasia. None of the patients had abnormal serum calcium detected preoperatively. Postoperatively, four patients had normal calcium, three had temporary hypocalcaemia and one refused followup. No patients had recurrent laryngeal nerve impairment. Conclusions. Despite the risk of removing a histologically normal gland, we believe that when parathyroid “incidentalomas” are found during surgery they should be excised and sent for histological analysis. We have found this to be a safe procedure with minimal morbidity to the patient. As the natural history of primary hyperparathyroidism is better understood, these glands found in normocalcaemic patients may in fact represent the early or preclinical phase of the disease. By removing them at the original operation, the patient is saved redo neck surgery with its high complication rate as or when clinically apparent primary hyperparthryoidism develops in the future.

Download Full-text

Konversion eines postoperativen Hypoparathyreoidismus in einen Hyperparathyreoidismus bei ektopem Nebenschilddrüsenadenom

Nuklearmedizin ◽

10.1055/a-0914-2451 ◽

2019 ◽

Vol 58 (04) ◽

pp. 333-336

Author(s):

K. H. Davis ◽

C. Happel ◽

R. du Mesnil de Rochemont ◽

T. J. Vogl ◽

F. Grünwald

Keyword(s):

Thyroid Cancer ◽

Parathyroid Hormone ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Imaging Modalities ◽

Hormone Levels ◽

History Of ◽

Childhood Medulloblastoma ◽

Vein Catheterization

AbstractWe present a patient with a history of thyroid cancer, presumably following radiochemotherapy of a childhood medulloblastoma, who developed a primary hyperparathyroidism 10 years after long-term postsurgical hypoparathyroidism. All established imaging modalities failed to detect the origin and only selective neck sampling could identify the suspected parathyroid adenoma causing hyperparathyroidism. This encourages the use of selective neck vein catheterization, particularly in patients with only slightly elevated parathyroid hormone-levels or suspected small ectopic adenoma.

Download Full-text

Cinacalcet HCl Reduces Hypercalcemia in Primary Hyperparathyroidism across a Wide Spectrum of Disease Severity

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2010-1221 ◽

2011 ◽

Vol 96 (1) ◽

pp. E9-E18 ◽

Cited By ~ 78

Author(s):

Munro Peacock ◽

J. P. Bilezikian ◽

M. A. Bolognese ◽

Michael Borofsky ◽

Simona Scumpia ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Disease Severity ◽

Wide Spectrum ◽

Elevated Serum ◽

Vital Signs ◽

Normal Serum ◽

Areal Bone Mineral Density ◽

Mineral Density ◽

Hematological Indices ◽

Bone Specific Alkaline Phosphatase

Context: Primary hyperparathyroidism (PHPT) is characterized by elevated serum calcium (Ca) and increased PTH concentrations. Objective: The objective of the investigation was to establish the efficacy of cinacalcet in reducing serum Ca in patients with PHPT across a wide spectrum of disease severity. Design and Setting: The study was a pooled analysis of data from three multicenter clinical trials of cinacalcet in PHPT. Patients : Patients were grouped into three disease categories for analysis based on the following: 1) history of failed parathyroidectomy (n = 29); 2) meeting one or more criteria for parathyroidectomy but without prior surgery (n = 37); and 3) mild asymptomatic PHPT without meeting criteria for either above category (n = 15). Intervention: The intervention in this study was treatment with cinacalcet for up to 4.5 yr. Outcomes: Measurements in the study included serum Ca, PTH, phosphate, and bone-specific alkaline phosphatase, and areal bone mineral density (aBMD). Vital signs, safety biochemical and hematological indices, and adverse events were monitored throughout the study period. Results: The extent of cinacalcet-induced serum Ca reduction, proportion of patients achieving normal serum Ca (≤10.3 mg/dl), reduction in serum PTH, and increase in serum phosphate were similar across all three categories. Except for decreased aBMD at the total femur indicated for parathyroidectomy group at 1 yr, no significant changes in aBMD occurred. The efficacy of cinacalcet was maintained for up to 4.5 yr of follow-up. AEs were mild and similar across the three categories. Conclusions: Cinacalcet is equally effective in the medical management of PHPT patients across a broad spectrum of disease severity, and overall cinacalcet is well tolerated.

Download Full-text

Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

Acta Endocrinologica ◽

10.1530/eje-09-0257 ◽

2009 ◽

Vol 161 (1) ◽

pp. 207-210 ◽

Cited By ~ 28

Author(s):

C Brachet ◽

E Boros ◽

S Tenoutasse ◽

W Lissens ◽

G Andry ◽

...

Keyword(s):

Parathyroid Adenoma ◽

Serum Calcium ◽

Receptor Gene ◽

Causal Link ◽

Urinary Calcium ◽

High Serum ◽

Calcium Excretion ◽

Loss Of Function ◽

Mixed Family ◽

History Of

ObjectiveFamilial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperparathyroidism. It is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR).DesignWe report the case of a 16-year-old patient with hypercalcaemia and a mixed family history of parathyroid adenoma and mild hypercalcaemia. Serum calcium was 14 mg/dl with a serum iPTH of 253 pg/ml.ResultsA neck 99mTc-sesta MIBI tomoscintigraphy showed a definite hyperactivity in the left upper quadrant. A surgical four-gland exploration confirmed a single parathyroid adenoma. After surgical resection of a left superior parathyroid adenoma, the patient's hypercalcemia improved but did not normalize, returning to a level typical of FHH. An inactivating mutation in exon 4 of the CASR gene, predicting a p.Glu297Lys amino acid substitution was found.ConclusionsThus, this 16-year old patient presented with the association of FHH and a single parathyroid adenoma. The young age of the patient and the association of parathyroid adenoma and FHH in his grandmother argue for a causal link between CASR mutation and parathyroid adenoma in this family. This case contributes to illustrate the expanding clinical spectrum of CASR loss-of-function mutations.

Download Full-text