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

Pradhan, Roma; Agarwal, Amit; Gupta, Sushil K.

doi:10.4103/ijem.ijem_54_18

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…Vitamin D and calcium deficiency could be other reasons for a higher incidence in the Indian population. [ 5 ] Our study group included four babies with NSPHPT unlike other published studies [ Table 2 ] with an updated series of a total of 7 babies to date. The age distribution is very similar to the adult population since the younger and middle-aged clusters of PHPT are more common in the adult PHPT as well.…”

Section: Discussionmentioning

confidence: 99%

“…Also, multiple endocrine neoplasias with four-gland hyperplasia and other rarer syndromic causes of PHPT like PHPT-jaw syndrome may need to be considered during evaluation in children, unlike single adenoma in most adults. [ 5 ] Hence, detailed evaluation from an etiological perspective is also warranted. From a management perspective, surgical exploration of all glands including ectopic locations may be required in most of the patients for optimal outcome implying the need for greater expertise.…”

Section: Introductionmentioning

confidence: 99%

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Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

Sadacharan,

Rao,

Mahadevan

et al. 2024

Indian Journal of Endocrinology and Metabolism

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Background: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection. Aim: To study surgically treated pediatric PHPT retrospectively. Methods: Surgically treated children of PHPT up to 20 years of age between 2010 to 2022 were analyzed. All of them were operated on by an endocrine surgeon and team. Results: There was a total of 712 parathyroidectomies over 12 years, out of which there were 52 children (7.3%) had PHPT at less than 20 years of age. This group included 32 male children. The mean age was 16.1 years, including 7 cases of neonatal severe HPT. Multiple Endocrine Neoplasia type 1 was confirmed in 12 children. Presentations were more severe like bone pain (35.13%), renal stones (27.02%), incidental asymptomatic detection (18.9%), failure to thrive (10.8%), and pancreatitis (8.1%) as compared to adults. Mean serum calcium was 12.9 mg/dl (highest-14.1, N-8.8-10.8 mg/dl), mean parathormone levels were 386.91 pg/ml (N-10-65) and vitamin D levels ranged from 2.9-22.8 ng/ml. Localization was done with ultrasound and 99mTc- SESTAMIBI scans. Mean serum calcium levels in NSPHPT were 28.6 mg/dl (N-8.8-10.8 mg/dl). There were a total of 45 cases (6.32%) of PHPT less than 20 years of age, excluding the cases of NSPHPT. All children underwent parathyroidectomy, with 14 cases having an additional thymectomy, 2 cases with thyroidectomy, and a single case of hemithyroidectomy. The cure rate was 97.3%, while one baby with NSPHPT had persistent disease (postop PTH-110 pg/ml). The uniglandular disease was seen in 54.05% and the rest had a multiglandular disease. Adults accounted for 559/660 cases with 80% uniglandular disease. All cases had a postoperative histopathological confirmation with an average follow-up of 1 year. Conclusion: Childhood PHPT has a few features same as the adult population. Symptomatic presentations like adults, though pancreatitis and fatigue were more commonly seen as compared to bone pain. Calcium, phosphorus, and parathormone levels were comparable. Uniglandular involvement was seen just like the adult population. There are a few others that make them a distinct subtype like their symptoms of bone pain and being more common among boys. One-fourth of them had MEN1. Fewer cases in this age group make them unique.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

Sadacharan,

Rao,

Mahadevan

et al. 2024

Indian Journal of Endocrinology and Metabolism

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Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

Gafar¹,

Fadlalbari

Abdalla

et al. 2022

BMC Endocr Disord

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Background Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. Case presentation A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy. Conclusion Although PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.

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Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report

et al. 2023

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Background Primary hyperparathyroidism which is rare in adolescents presents commonly with non-specific symptoms and systemic complaints. Though there are few reported cases of genu valgus, genu valgus progressing to extensive bone disease despite mildly elevated calcium had not been reported before. Case presentation A 12-year-old male had been evaluated for bilateral (left > right) genu valgus and short stature. Serum calcium and phosphate levels had been normal. X-ray of the femora and pelvic bones had not shown additional abnormalities. Valgus deformity progressed despite left femoral plating, and a left distal femoral medial closed wedge osteotomy had been performed at 15 years. Plain imaging at that time had shown localised osteopaenia. At the age of 17 years, he developed multiple fragility fractures of his left hip rendering him wheelchair-bound. Further evaluation revealed a serum PTH level of 2571 (10–65) pg/mL with calcium of 2.82 (2.2–2.6) mmol/L and inorganic phosphate of 1.7 (2.2–4.7) mg/dL. The lumbar spine DXA scan showed a Z-score of -5.8. A left parathyroid adenoma was localised and there was evidence of hyperparathyroid bone disease including brown tumours. He underwent left parathyroidectomy and left thyroid lobectomy after which his PTH level dropped to 4.03 pg/mL. He developed hypocalcaemia which was managed successfully with calcium and alfacalcidol replacement. Conclusions Primary hyperparathyroidism can present with genu valgus in adolescents. Initial normocalcaemia which could be due to concomitant vitamin D deficiency could mask this leading to delayed diagnosis until severe irreversible bone disease ensues.

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

Cited by 4 publications

References 13 publications

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

Primary Hyperparathyroidism in Young and Adolescents: Alike or Unlike Adult Hyperparathyroidism? - A Series from South India

Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report

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