Hungry Bone Syndrome Associated with Transient Hypoparathyroidism

We report on an infant who presented at 50 days old of age with hypocalcemic seizure, who proved to have transient hypoparathyroidism, biochemically. During the course of his therapy, he developed severe hungry bone syndrome. Hungry bone syndrome and transient hypoparathyroidism is highlighted

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report

BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1

Primary Adrenal Insufficiency (PAI): A Major Teaching Hospital Experience, Riyadh, Saudi Arabia

Background: Primary adrenal insufficiency (PAI) in children is an uncommon, but potentially fatal. The current symptoms include weakness, fatigue, anorexia, abdominal pain, weight loss, orthostatic hypotension, salt craving and characterized by hyperpigmentation. Material and Methods: This is a retrospective, hospital based-study, conducted at King Khalid University Hospital (KKUH), during the period January 1989 and December 2014. Review of medical record of patient diagnosed with primary adrenal insufficiency. The diagnosis was based on medical history, physical examination and low levels of glucocorticoids and raised adrenocorticotropic hormone (ACTH). Appropriate laboratory and radiological investigations were also reviewed. Results: During the period under review, January 1989 and December 2014, a total of 125 patients with the diagnosis of primary adrenal insufficiency were seen. Inherited disorders like congenital adrenal hyperplasia and hypoplasia were common, 85.5%. However, variable autoimmune mediated etiologic diagnosis accounted for, 13%, were also seen. The appropriate various laboratory and radiological investigations should be planned. Conclusion: Although, congenital adrenal hyperplasia was the commonest etiology, however, congenital adrenal hypoplasia should not be over looked. The diagnosis of PAI can be challenging in some patients, and therefore appropriate serological and radiological investigations should be done

Disorders of Sex Development: Diagnostic Approaches and Management Options— An Islamic Perspective

Ambiguous genitalia, currently defined as disorders of sex development (DSD), are not uncommon in the Muslim community. DSD constitute a complex, major social and medical emergency, as several forms of congenital adrenal hyperplasia can lead to significant salt loss, which may lead to shock if unrecognised and not appropriately treated. To ensure that the affected individual has a high quality of life (a successful outcome), medical practitioners must quickly and correctly assign the individual’s gender and effectively assuage the family’s concerns and anxieties. It is important to review and understand the embryology and physiology of sexual differentiation, and to understand the various aetiological causes of sexual ambiguity. In this review, the diagnostic approach and management of ambiguous genitalia is thoroughly discussed from an Islamic point of view