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

Abstract

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.

A case report of primary hyperparathyroidism in an adolescent during Ramadan fast

“…First, they are very rare in these populations, with an estimated incidence of 1/300,000 compared to 28/100,000 in adults. 1 Second, when they occur in this population, they present with nonspecific symptoms ranging from subtle gastrointestinal symptoms like nausea and vomiting to even more severe features like heart block and bone fracture. Our patient presented with some of these vague symptoms: abdominal pain, constipation, unintentional weight loss, palpitation, and headache.…”

“…7 It is important to mention that, unlike adults, the majority of children and adolescents at the time of diagnosis are symptomatic and usually present with end-organ damage. 1 …”

“…Primary hyperparathyroidism (PHPT) in the young population is uncommon and usually presents with ambiguous symptoms. 1 Healthcare providers, therefore, do not often suspect this disorder when patients present with some of these nonspecific symptoms. Unlike adults, the majority of children and adolescents with PHPT present with end-organ damage secondary to hypercalcemia at the time of diagnosis.…”

“…Unlike adults, the majority of children and adolescents with PHPT present with end-organ damage secondary to hypercalcemia at the time of diagnosis. 1 , 2 There have been some reported cases of asymptomatic PHPT in young children where hypercalcemia was detected incidentally. 3 Some environmental and lifestyle factors, including diet, smoking, exercise, alcohol, body mass index, and fasting, have been shown to change serum calcium and parathyroid hormone (PTH) levels.…”

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

“…Another study published by Gafar et al . [ 16 ] also mentioned preoperative hydration, saline diuresis, and cinacalcet to treat severe hypercalcemia before surgery.…”