Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings.

Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magnetic Resonance Imaging (MRI) of the brain detects structural pituitary anomalies associated with GH deficiency. This retrospective hospital-based study was conducted at King Khalid University hospital (KKUH), Riyadh, Saudi Arabia, during the period (January 1995-June 2016).

Precocious puberty: An experience from a major teaching hospital in Central Saudi Arabia.

Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016.

Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening.

Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, growth retardation and dysmorphism. Thyroid status of patients with SSS has not been widely explored. Therefore, we aimed to review the occurrence of autoimmune thyroiditis, which is commonly associated with other genetic disorders, in SSS.

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia.

Background: The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades.

The clinical pattern of diabetes Insipidus in a large university hospital in the Middle East.

Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis.

Infantile Systemic Hyalinosis Complicated with Right Atrial Thrombus and Pericardial Effusion in an Infant.

Infantile systemic hyalinosis (ISH) is a rare multisystem fatal autosomal recessive disorder that involves widespread deposition of hyaline on connective tissues and certain internal organs. The major manifestations include painful articular contractures, hyperpigmentation, subcutaneous nodules, gingival hypertrophy, failure to thrive secondary to protein-losing enteropathy, and osteolytic bone lesions. In this paper, we report a 12-month-old girl with ISH presenting with recurrent diarrhea, failure to thrive, and refractory infections.

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.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Background: Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare.

Case Presentation: Here, we report on a female infant who presented with fever, convulsions, and polyuria.

Managing traumatic brain injury in children: When do we need a computed tomography of the head?

Accidents still represent a major cause of death and disability in children. The resultant traumatic brain injury (TBI) usually needs a multidisciplinary approach of management. Although computed tomographic (CT) head scan is generally a preferred investigation in TBI, however, clear guidelines are required to help decision making by different team members on "when a head CT scan is needed", its limitations, and "when it is likely to be informative".

Imaging of disorder of sex development.

Background And Objectives: Disorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy that remains one of the most important factors in sex determination, in addition to chromosomal analysis.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Background: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.

Case Presentation: We report two Saudi siblings with TT1.

Radiological imaging of disorders of sex development (DSD).

The birth of a child with ambiguous genitalia is a matter of a medical and social emergency to decide the appropriate sex rearing and eventually to prevent the associated metabolic disturbances. It must be taken with immediacy and great sensitivity. The pediatric endocrinologist should share the care with a team consists of a pediatric urologist, or surgeon, a pediatric radiologist, geneticist and a child psychiatrist or psychologist who should work closely with the family.

Rickets and osteomalacia in Saudi children and adolescents attending endocrine clinic, Riyadh, Saudi Arabia.

This is a retrospective study in which we report our clinical experience during the period from January 1990 to December 2009, from a paediatric endocrine clinic at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia. The diagnosis of rickets and oestomalacia was based on clinical, biochemical and radiological data. Eighty-one (34 males and 47 females) children and adolescents with rickets or osteomalacia aged 2 to 18 years (mean; 9.

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.

Ambiguous genitalia: two decades of experience.

Background And Objectives: Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation.

Design And Setting: A retrospective study conducted in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008.

Pattern of celiac disease in infants and children.

This study involved all children with celiac disease admitted and seen in the Paediatric Gastroenterology Clinic at King Khalid University Hospital (KKUH) over a 10-year period. In the first year, we identified 62 cases with celiac disease. Their mean age at presentation, introduction to cereals in the diet, and onset of symptoms were 6.

Nutritional rickets and osteomalacia in school children and adolescents.

Objective: To review experiences of nutritional rickets and osteomalacia in school children and adolescents at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia.

Methods: Records of children and adolescents aged 6-18 years, seen at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia, during the period January 1994 through to December 1999, who were diagnosed to have rickets or osteomalacia were reviewed. The diagnosis was based on clinical, biochemical and radiological data.