A 24-year old male was referred to endocrinology outpatient with absence of hair on scalp, eyebrows, eyelids, and body since birth, short stature, bone pains, proximal muscle weakness, and recurrent fractures of long bones. He was a product of second degree consanguineous marriage. He was eldest of two siblings. His younger brother aged 16-years was suffering from similar complaints.
Clinical examination revealed alopecia universalis, short stature, hypotonia, proximal muscle weakness, deformed pelvis, genu-varum, malunited fractures of shaft femora, and both bones left forearm. Rest of the general and systemic examination was normal. His wrist radiograph taken at two years of age had shown changes of rickets. He was earlier treated with herbal medicines and for past six months he was being treated with 250 mg elemental calcium three times a day, and calcitriol 0.5 µgm twice a day, with poor response. His haemogram, serum creatinine, serum sodium and potassium were normal. Other relevant laboratory investigations revealed -
|Prior to therapy||At referral||Normal range|
|Serum calcium (mmol/L)||1.85||1.96||2.2-2.6|
|Serum phosphate (mmol/L)||1.2||1.3||1.4-2.2|
|Serum alkaline phosphatase (IU/L)||3068||3076||145-320|
|Serum 25(OH) D (nmol/L)||28||230||25-85|
|Serum 1, 25 (OH)2 D(pmol/L)||521||1467||40-105|
|Serum PTH (ng/L)||68||58||10-65|
The diagnosis is Hereditary vitamin D-resistant rickets (HVDRR) or vitamin D-dependent rickets type II (VDDR II). HVDRR is caused by a generalized resistance to 1,25 (OH)2 D3. The major clinical findings are hypocalcaemia and rickets, which are due to defective mineralization of newly forming bone and preosseous cartilage. Many children with HVDRR have sparse body hair and some have total scalp and body alopecia including eyebrows and in some cases eyelashes.
03 - 04 Dec 2001
Society for Endocrinology