Table 3 Summary of reported patients with hyperparathyroidism and genu valgus
Author, year | Age at presentation, sex | Age at diagnosis | Clinical features | Radiology | Total Calcium | Phosphate | ALP (IU/L) | PTH | Other |
|---|---|---|---|---|---|---|---|---|---|
Dikova, 2021 [7] | 9, F | 12 | B/L genu valgus, inability to walk, obesity | Fibrocystic osteodystrophy, cysts, brown tumours | 3.73 mmol/L | 0.8 mmol/L | 4700 | 2238 pg/mL | Vit D- 14 nmol/L, Urine Ca- 6.16 mmol/L |
15, F | 15 | L/ genu valgus, waddling gait | Osteoporosis and bone cysts | 3.15 mmol/L | 0.87 mmol/L | 1973 | 709 pg/mL | Vit D- 23.3 nmol/L | |
Lee, 2021 | 13, M | 15 | B/L genu valgus, short stature | No features typical of rickets | 2.97 mmol/L | 1.03 mmol/L | 1354 | 154 pmol/L | |
Yanrismet, 2019 [9] | 13, M | 13 | B/L genu valgus, muscle weakness, difficulty in walking, bone and joint pain | Low bone density, epiphyseal widening, rugger-jersey spine, B/L SUFE | High | Low | NR | 1301 pg/mL | Low vitamin D Low BMD |
Rao, 2019 [10] | 11, F | 12 | B/L genu valgus | Generalised osteopaenia and subchondral resorption | 8.1 mg/dL | 2.8 mg/dL | 6690 | 2616 pg/mL | Vitamin D: 17.79 ng/mL |
Paruk, 2019 [11] | 14, M | 17 | B/L genu valgus, short stature, rickets features, delayed puberty | Features of rickets, B/L fractures of the metaphyseal region of the femur | 3.02 mmol/L (corrected) | 1.44 mmol/L | 929 | 134.6 pmol/L (67.9 at the initial presentation) | BMD Z scores: -5 at hip and -4.9 at spine 24-h urinary calcium: 6.1 mmol 1,25 Vitamin D: 1384 pmol/L (48–108) at the initial presentation |
13, M | 13 | L/ genu valgus and r/ genu varus, quadriceps weakness and wasting | Features of rickets, Brown tumours, subperiosteal resorption, pepper pot skull | 3.4 mmol/L (corrected) | 0.97 mmol/L | 1193 | 131.1 pmol/L | 24-h urinary calcium: 7.5 mmol BMD Z core -2.4 at hip and -4.8 at spine | |
Khan, 2019 [12] | 11, M | 17 | Muscle wasting, tender ribs, B/L genu valgus, eversion of ankle joints, flat feet short stature | flaring, widening and splaying of the distal femur and tibia, cupping and fraying without epiphyseal closure | 16.3 mg/dL (7.9 mg/dL at the initial presentation) | 3.1 mg/dL | 1118 (867 at the initial presentation) | 122.3 pg/mL | Vitamin D: 69.3 ng/mL |
George, 2019 [13] | 14, M | 15 | B/L genu valgus, rachitic rosary, Harrison sulcus, proximal myopathy | B/L SUFE | 17.2 mg/dL | 2.8 mg/dL | NR | 1052 pg/mL | |
Pradhan, 2018 [14] | NR, F | 17 | B/L genu valgus, wrist widening | Rickets features on hands, B/L SUFE | 14.2 mg/dL | 3.4 mg/dL | 1400 | 1967 pg/mL | Vitamin D: 25.1 nmol/L, 24-h urinary calcium: 282 mg |
12, F | 15 | B/L genu valgus, hip dislocation, wrist widening, rachitic rosary and kyphosis, left hand and clavicle fractures | Generalised osteopaenia, increased trabecular pattern | High | NR | High | 1250 pg/mL | Vitamin D: low | |
Arambewela, 2017 [15] | 11, F | 12 | B/L genu valgus | B/L SUFE, rugger jersey spine, epiphyseal displacement of humeri, subperiosteal bone resorption, no rickets changes | 1.5 mmol/L (ionised) | 2.3 mg/dL | 3210 | 796 pg/mL | Urinary calcium creatinine ratio: 0.06 Z score: -3.4 Vitamin D: 25 nmol/L |
Zil, 2016 [16] | 12, F | 14 | Short stature, B/L genu valgus, flat feet, pectus carinatum, scoliosis | Generalised osteopaenia, lytic and sclerotic lesions, brown tumours, no rickets changes | 13.5 mg/dL | 2 mg/dL | 415 | 3203 pg/mL | Vitamin D: 24.9 ng/mL |
Sharma, 2016 [17] | 11, F | 15 | Genu valgus, pectus carinatum, proximal weakness | Generalised osteopaenia, subperiosteal resorption, cysts | 13.2 mg/dL | 2.64 mg/dL | 10,280 | > 2500 pg/mL | 24-h urinary calcium: 300 mg Vitamin D: 18 ng/mL |
Ganie, 2016 [29] | 14, M | 14 | B/L genu valgus, features of rickets | Features of rickets | 15.2 mg/dL | 2.4 mg/dL | 3936 | 1164 pg/mL | 24-h urinary calcium: 460 mg Vitamin D: 18 ng/mL |
14, M | 14 | B/L genu valgus, features of rickets | Features of rickets and a lytic lesion in a phalanx | 14.8 mg/dL | 1.3 mg/dL | 1652 | 657 pg/mL | 24-h urinary calcium: 200 mg Vitamin D: 40 ng/mL | |
15, M | 15 | Genu valgus, features of rickets and tibial shaft fracture | Features of rickets and tibial fractures | 12 mg/dL | 2.5 mg/dL | 240 | 60 pg/mL | 24-h urinary calcium: 350 mg Vitamin D: 19 ng/mL | |
Ramkumar, 2014 [18] | 12, M | 16 | B/L genu valgus, arthralgia, polyuria | Brown tumour | 11 mg/dL | 3.7 mg/dL | 2416 | 760 pg/mL | 24-h urinary calcium: 570 mg Vitamin D: 9 ng/mL |
13, M | 13 | B/L genu valgus, abdominal pain, vomiting, myalgia | Brown tumours | 10.7 mg/dL | 3.7 mg/dL | 1001 | 1136 pg/mL | 24-h urinary calcium: 520 mg Vitamin D: 5.1 ng/mL | |
Ratnasingam, 2013 [19] | NR, F | 16 | B/L genu valgus | Generalised osteopaenia, subperiosteal resorption, terminal resorption | 12.4 mg/dL | 2.8 mg/dL | 1136 | 1649 pg/mL | Vitamin D: 28 ng/mL 24-h urinary calcium: 196 mg |
Dutta, 2013 [20] | 8, F | 12 | Short stature, B/L genu valgus, ankle eversion deformity, flat feet | Generalised osteopaenia, widening of distal ends of long bones with splaying, cupping and fraying | 7.8 mg/dL (After vitamin D correction: 11.9) | 1.4 mg/dL | 1322 (After vitamin D correction: 732) | 811 pg/mL (After vitamin D correction: 632) | Vitamin D: 8.7 ng/mL (After vitamin D correction: 41) |
Walczyk, 2011 [21] | NR, M | 15 | B/L genu valgus, overweight, hypertension, recurrent infections, seizures | osteoporosis | 14.6 mg/dL | 1.42 mg/dL | NR | 880 pg/mL | Z score -1.15 |
Harman, 1999 [22] | 14, F | 11 | B/L genu valgus | Lytic lesions in metacarpal bones | NR | NR | NR | NR | Extracted from a case series |
Menon, 1994 [23] | 8, F | 14 | B/L genu valgus, short stature, frontal bossing, rachitic rosary, lumbar lordosis, fixed adduction deformity of left leg | Generalised osteopaenia, subperiosteal resorptions, salt and pepper appearance on skull, erosions on lateral ends of clavicles, brown tumours | 2.69 mmol/L | 1.23 mmol/L | 824 | 790 ng/L | 24-h urinary calcium: 2.87 mmol |
Kauffmann, 1993 [24] | 13, F | 14 | B/L genu valgus, backache | Subperiosteal resorption of bone, skull demineralisation, B/L coxa vara | 3.8 mmol/L | 0.76 mmol/L | 6612 | 1066 pg/mL | Urinary excretion of calcium: 26 mg/g/day 1,25 OH D3: 125 ng/mL (20–80) |
Rapaport, 1986 [25] | 12, F | 15 | B/L genu valgus, weight loss, polyuria, calculi, GI and neuropsychiatric | ‘Moth-eaten’ skull | 17.1 mg/dL | 1.6 mg/dL | NR | NR | |
13, M | 15 | B/L genu valgus, calculi | Osteoporosis | 13.7 mg/dL | 1.5 mg/dL | NR | NR | ||
Lloyd, 1965 [26] | 12, M | 14 | B/L genu valgus, weakness, neurological manifestations, palpable beading in the ribs, thoracic scoliosis | Subperiosteal erosions, cyst like lesions, enlarged, irregular epiphyseal plates | 17.6 mg/dL | 3.1 mg/dL | 52 King-Amstrong units | NR | 24-h urinary calcium: 457 mg |
Balch, 1953 [27] | 17, F | 21 | B/L genu valgus, vomiting, nocturia, tenderness over ribs, clubbing | Generalised demineralisation, cystic areas | 21.2 mg/dL | 2 mg/dL | 127 King-Amstrong units | NR | |
McCulre, 1945 [28] | 14, F | 14 | B/L genu valgus | Low bone density with coarse trabeculations, | 15.3 mg/dL | 2.6 mg/dL | 6.37 Bodansky units | NR | Urine calcium excretion six times elevated |