Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

The diagnosis and management of metabolic bone disease among children can be challenging. This difficulty could be due to many factors, including limited awareness of these rare conditions, the complex pathophysiology of calcium and phosphate homeostasis, the overlapping phenotype with more common disorders (such as rickets), and the lack of specific treatments for these rare disorders. As a result, affected individuals could experience delayed diagnosis or misdiagnosis, leading to improper management.

Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.

Introduction: X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion.

Diagnosis and management of neonatal diabetes mellitus: A survey of physicians' perceptions and practices in ASPED countries.

Aim: To ascertain the awareness and practice of neonatal diabetes mellitus (NDM) among paediatricians in Arab countries.

Methods: An online questionnaire was distributed to physicians associated with the Arab Society for Paediatric Endocrinology and Diabetes (ASPED).

Results: We received 126 replies, from 16 countries.

Management of diabetes during Ramadan fasting in children and adolescents: A survey of physicians' perceptions and practices in the Arab Society for Paediatric Endocrinology and Diabetes (ASPED) countries.

Aim: To ascertain the pattern of diabetes management during Ramadan fasting in childhood and adolescence among physicians in Arab countries.

Methods: An online electronic survey questionnaire was distributed to physicians registered in the Arab society for Paediatric Endocrinology and Diabetes (ASPED).

Results: Of the 167 responders, 114 (86.

Homozygous Resistance to Thyroid Hormone : Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?

Resistance to thyroid hormone (RTH) due to homozygous defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinical, metabolic, ophthalmic, and cardiac findings in a 9-year-old boy harboring a biallelic mutation (R243Q), along with biochemical, physiologic, and cardiac responses to carbimazole and triiodothyroacetic acid (TRIAC) therapy.