Introduction: Coincided familial hypophosphatemic rickets (FHR) and Hypopituitarism is a rare condition. Growth hormone deficiency (GHD) evaluation has been advocated for refractory FHR cases, considering the possible masking effect of FHR on the former. Moreover, there has been controversial use of growth hormone as an adjunct therapy in FHR. Case Presentation: A 19-month-old girl was presente...

Derangements in serum phosphate level result in rickets/osteomalacia or ectopic calcification indicating that healthy people without these abnormalities maintain serum phosphate within certain ranges. These results indicate that there must be a regulatory mechanism of serum phosphate level. Fibroblast growth factor 23 (FGF23) was identified as the last member of FGF family. FGF23 is produced by...

Phosphorus is a critical element in skeletal development, bone mineralization, membrane composition, nucleotide structure, and cellular signaling. Similar to calcium, the serum phosphorus level is maintained within a narrow range through a complex interplay between intestinal absorption, exchange with intracellular and bone storage pools, and renal tubular reabsorption. The principal organ that...

Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

In 1937, Fuller Albright first described two rare genetic disorders: Vitamin D resistant rickets and polyostotic fibrous dysplasia, now respectively known as X-linked hypophosphatemic rickets (XLH) and the McCune-Albright syndrome. Albright carefully characterized and meticulously analyzed one patient, W.M., with vitamin D-resistant rickets. Albright subsequently reported additional carefully p...