© Springer India 2016 131
A. Bhansali et al., Clinical Rounds in Endocrinology,
DOI 10.1007/978-81-322-2815-8_5
5
Rickets–Osteomalacia
5.1 Case Vignette
A 25-year-old female presented with fracture neck of the left femur following
trivial trauma. She had history of diffuse aches and pains and proximal muscle
weakness for the last 6 months. After sustaining fracture, she became bedbound
and was referred to our institute. There was no history of recurrent pain abdo-
men, diarrhea, steatorrhoea, polyuria, graveluria, or periodic paralysis. She had
history of poor exposure to sunlight and deficient intake of dairy products. There
was no past history of fracture, renal stone disease, gallstone disease, or pancre-
atitis. She had no history of use of glucocorticoids in any form, alternative medi-
cations, bisphosphonates, or calcium and vitamin D preparations. However, she
complained of difficulty in swallowing and foreign-body sensations in her eyes.
She had two live children and the last child birth was 3 years earlier, and she
continues to menstruate regularly. Family history was noncontributory. On
examination, she was lean, thin, emaciated, diffusely hyperpigmented, and had
pallor, cheilosis, and glossitis. Her blood pressure was 100/60 mmHg. She had
genu varum, kyphoscoliosis, diffuse bony tenderness, proximal muscle weak-
ness, and severe attrition of her teeth with pigmentation. She had no goiter and
deep tendon reflexes were delayed. Her eyes were suffused and tongue was dry.
Movements at left hip joint were restricted and painful. Systemic examination
was unremarkable. On investigations, hemoglobin was 10.2 g/dl, serum creati-
nine 1.2 mg/dl (eGFR 40 ml/min), Na+ 145 mEq/L, K+ 3.4 mEq/L, corrected
calcium 9 mg/dl, phosphorus 3.0 mg/dl, alkaline phosphatase 919 IU/L (N < 128),
iPTH 220 pg/ml (N 15–65), and 25(OH)D 30 ng/ml (N 30–70). Twenty-four-
hour urinary calcium was 211 mg, phosphate 500 mg, and protein 1.2 g. Arterial
blood gas analysis revealed pH 7.28, HCO 3 9.5 mEq/L, and calculated anion
gap 11 mEq/L, and corresponding urine pH was 6.5. Serum T 4 was 4.6 μg/dl
(N 4.8–12.7), TSH 78 μIU/ml (N 0.27–4.2), and anti-TPO antibody 480 IU/ml