Primary Hyperparathyroidism Masquerading as Rickets: Diagnostic Challenge and Treatment Outcomes

Dutta, Deep; Kumar, Manoj; Das, Ram; Datta, Saumik; Biswas, Dibakar; Ghosh, Sujoy; Mukhopadhyay, Satinath; Chowdhury, Subhankar

doi:10.4274/jcrpe.1060

Cited by 12 publications

(7 citation statements)

References 8 publications

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“…In pediatric and juvenile PHPT, there is more extensive and severe musculoskeletal involvement. Primary hyperparathyroidism may masquerade as rickets in children and adolescents which has earlier been reported in a few case reports [4][5][6][7][8][9]. In our cohort, 50% patients presented with rachitic manifestations with genu valgum being the most predominant phenomenon.…”

Section: Discussionsupporting

confidence: 63%

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The spectrum of manifestations of primary hyperparathyroidism in children and adolescents

Boro¹,

Khatiwada²,

Alam³

et al. 2022

pedm

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Introduction: Primary hyperparathyroidism (PHPT) is a rare disease in children and adolescents. Early recognition of this disease is important to prevent significant morbidity and mortality. Material and methods: We included 10 consecutive patients with PHPT aged 14 to 19 years of age and followed-up prospectively upto one year after parathyroidectomy. Results: Our cohort included 6 females and 4 males. The mean age of the patients was 16.7 ±1.8 years. The symptoms at presentation were musculoskeletal pain (90%), bone deformity (50%), fracture (30%), proximal myopathy (40%), renal stones (50%), reflux symptoms (40%), and pancreatitis (30%). The mean serum calcium was 3.1 ±0.5 mmol/l, mean serum inorganic phosphorus was 0.9 ±0.3 mmol/l and median serum alkaline phosphatase (ALP) was 1911.5 IU/l (IQR: 522.7-5702.3). The median serum intact parathyroid hormone was 133.5 pmol/l (IQR: 69.5 -178.7) while serum 25(OH)D was 47.7 nmol/l (IQR: 23.7-72.7). Hypercalciuria was observed in 7 patients. Hungry bone syndrome was observed in 4 (40%) patients after surgery. Typical parathyroid adenoma was found in 9 (90%) patients while one patient had atypical adenoma with high mitotic index. After one year of surgery, all patients had significant improvement in clinical and biochemical parameters with persistence of residual bone deformities. Conclusions: Our study showed the spectrum of manifestations of PHPT in children and adolescents and outcomes of parathyroidectomy till one year. Long-term follow-up studies with bigger cohorts are required to understand the true nature of the disease in children and adolescents.

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Section: Discussionsupporting

confidence: 63%

“…The literature on pediatric PHPT is so far limited to a few case reports and case series [4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

The spectrum of manifestations of primary hyperparathyroidism in children and adolescents

Boro¹,

Khatiwada²,

Alam³

et al. 2022

pedm

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“…In the case reported by Dutta et al . [ 1 ] their patient also had a single adenoma. In all our three children there was a single adenoma.…”

Section: Discussionmentioning

confidence: 98%

“…Rickets as presenting feature of PHPT in children is extremely rare with only 23 cases reported till date. [ 1 2 ] PHPT is typically a disease of post-menopausal women in Caucasian population. However, in areas of vitamin D deficiency and calcium deficiency, PHPT may be seen in young patients and even in children and adolescents.…”

Section: Discussionmentioning

confidence: 99%

PHPT masquerading as rickets in children and presenting with rare skeletal manifestations: Report of three cases and review of literature

Pradhan

Agarwal

Gupta

2018

Indian J Endocr Metab

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Primary hyperparathyroidism (PHPT) is an uncommon condition in children and adolescents. However, rapid growth spurt during puberty may result in unmasking and development of certain skeletal manifestations of PHPT. We present three cases of PHPT associated with rare skeletal manifestations of rickets. All three patients had radiological evidence of rickets with primary hyperparathyroidism. All the three patients had single gland adenoma. Literature is sparse regarding reversal of features of rickets following parathyroidectomy. In all three patients of our series, there was a complete resolution of bone/joint pain. However, in two children only the genu valgum persisted but their growth was normal and they had no proximal muscle weakness. In another child multiple corrective surgeries were done to correct the deformities.

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“… 13 , 31 , 32 There have been cases reported that primary hyperparathyroidism could masquerade as rickets, especially in childhood or in adolescence. 33–35 The possible explanation is that atypical clinical manifestations of FHH may coexist with vitamin D deficiency, and might be further aggravated by elevated PTH levels. Moreover, there may be deleterious effect of continuously high level of PTH that acts directly on chondrocytes.…”

Section: Discussionmentioning

confidence: 99%

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

Wang

Jiang

et al. 2017

Bone Res

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Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone (PTH), 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient’s CaSR gene revealed a new missense mutation (c.2279T>A) in exon 7, leading to the damaging amino change (p.I760N) in the mature CaSR protein, confirming the diagnosis of FHH. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated PTH levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities.

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Primary Hyperparathyroidism Masquerading as Rickets: Diagnostic Challenge and Treatment Outcomes

Cited by 12 publications

References 8 publications

The spectrum of manifestations of primary hyperparathyroidism in children and adolescents

The spectrum of manifestations of primary hyperparathyroidism in children and adolescents

PHPT masquerading as rickets in children and presenting with rare skeletal manifestations: Report of three cases and review of literature

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

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