Ectopic thymic parathyroid adenoma and vitamin D deficiency rickets: A 5-year-follow-up case report and review of literature

Pitukcheewanont, Pisit; Numbenjapon, Nawaporn; Costin, Gertrude

doi:10.1016/j.bone.2007.10.006

Cited by 10 publications

(14 citation statements)

References 23 publications

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“…Asymptomatic PHPT is defined as hyperparathyroidism in the absence of specific symptoms or signs that results from hypercalcaemia or PTH excess. Rickets/osteomalacia has been reported as a rare presenting feature in paediatric PHPT . However, in a previous small case series of paediatric PHPT (n = 13) in our centre, the prevalence of rickets was up to 84.6% .…”

Section: Methodsmentioning

confidence: 58%

“…Rickets/osteomalacia had been reported in a few cases of paediatric PHPT from India, while being rarely mentioned in Western reports . Considering the higher prevalence of vitamin D deficiency or insufficiency in the Chinese and Indian populations compared to Western populations, vitamin D deficiency or insufficiency may be one of the contributing factors . It has been generally accepted that the severity of PHPT‐associated bone involvement is aggravated when there is coexisting severe vitamin D deficiency.…”

Section: Discussionmentioning

confidence: 99%

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Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Wang

Kong

Nie

et al. 2017

Clinical Endocrinology

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Section: Methodsmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Wang

Kong

Nie

et al. 2017

Clinical Endocrinology

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“…PHPT in our patient was due to a parathyroid adenoma. In the 19 cases of PHPT with rickets reported to date, 17 were due to parathyroid adenoma, one was due to parathyroid hyperplasia, and one to an ectopic thymic parathyroid adenoma (3,4). …”

Section: Discussionmentioning

confidence: 99%

“…However, pediatric cases of PHPT most commonly present as asymptomatic hypercalcemia in the Western countries, in contrast to India where a majority of young patients present with hypercalcemia and its complications (nephrolithiasis, fractures, and acute pancreatitis), multiglandular involvement, or with associated genetic syndromes (2,3). Rickets as the presenting feature of PHPT in children is extremely rare with less than 19 cases reported to date (3,4). Here, we report a 12-year-old girl presenting with typical features of rickets, diagnosed to have PHPT due to a right inferior parathyroid adenoma and who showed resolution of all clinical features following parathyroidectomy.…”

Section: Introductionmentioning

confidence: 99%

Primary Hyperparathyroidism Masquerading as Rickets: Diagnostic Challenge and Treatment Outcomes

Dutta

Kumar²,

Das³

et al. 2013

JCRPE

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Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. Radiograms showed generalized osteopenia, widening of the distal ends of the long bones along with splaying, cupping and fraying. Biochemical evaluation revealed low serum calcium (7.8 mg/dL), low phosphorus (1.4 mg/dL), vitamin-D deficiency [25-hydroxy-vitamin-D (25(OH)D): 8.7 ng/mL], and elevated intact parathyroid hormone (PTH, 811 pg/mL). Re-evaluation due to lack of clinical improvement following vitamin-D and calcium supplementation revealed hypercalcemia 11.9 mg/dL, normal 25(OH)D 41 ng/mL, persistence of elevated PTH 632 pg/mL. A 99mTc-sestamibi scan showed increased uptake at the lower pole of the right lobe of the thyroid. A right inferior parathyroidectomy was performed. Histopathology revealed chief cell type parathyroid adenoma. Last evaluated 4 months after surgery, the bone pains and proximal weakness had resolved, with significant improvement in the patient’s quality of life. Rickets in the setting of PHPT often masks the classical phenotype of PHPT. In a child with rickets, lack of improvement following vitamin-D supplementation, hypercalcemia at presentation or following vitamin-D supplementation are warning signs which necessitate further evaluation to rule out PHPT.Conflict of interest:None declared.

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“…Moreover it has been shown that vitamin D deficiency can mask the hypercalcaemia associated with PHPT and patients may actually be normocalcaemic, which may further cloud the diagnosis. 5 Therefore in the setting of vitamin D deficiency, serum calcium levels must also be reassessed after vitamin D replacement to exclude PHPT. In addition, presentation at a young age or the presence of severe disease should prompt consideration of genetic causes such as multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumour (HPT-JT) syndrome.…”

Section: Discussionmentioning

confidence: 99%

Rickets mimicker: a report of two cases of primary hyperparathyroidism in adolescence

Paruk

Pirie

Motala

2018

Journal of Endocrinology, Metabolism and Diabetes of South Afri

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The presentation of primary hyperparathyroidism (PHPT) in most Western countries has evolved from the classic description of 'stones, bones, and groans' to becoming increasingly asymptomatic as a result of more frequent serum calcium screening. However, many developing countries are still reporting predominantly symptomatic PHPT with the classic complications of skeletal disease and nephrolithiasis still being quite common. Furthermore, the exact prevalence of PHPT in children is not known but it is thought to be uncommon and the clinical presentation and outcomes in this subgroup of patients are not well described in the literature. Two cases of PHPT occurring in adolescent boys are reported. Both cases initially presented with chronic bone pain involving the lower limbs and had a long delay before the diagnosis of PHPT was confirmed. They developed progressive deformities of the lower limbs, which resembled rickets clinically. Radiological features were also suggestive of rickets. However, biochemistry confirmed parathyroid hormone mediated hypercalcaemia in both cases and after parathyroid surgery a parathyroid adenoma was confirmed histologically as the aetiology of hypercalcaemia. Therefore, PHPT occurring in adolescence may have a clinical presentation almost identical to that of rickets. All patients presenting with skeletal deformities including a rickets phenotype must have serum calcium and phosphate levels measured as part of the diagnostic workup.

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Ectopic thymic parathyroid adenoma and vitamin D deficiency rickets: A 5-year-follow-up case report and review of literature

Cited by 10 publications

References 23 publications

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Primary hyperparathyroidism in Chinese children and adolescents: A single‐centre experience at Peking Union Medical College Hospital

Primary Hyperparathyroidism Masquerading as Rickets: Diagnostic Challenge and Treatment Outcomes

Rickets mimicker: a report of two cases of primary hyperparathyroidism in adolescence

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