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. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay. A total of 62 patients were diagnosed with Precocious Puberty (PP); 43 had Central Precocious Puberty (CPP) while 19 had peripheral precocious puberty (PPP). The majority of girls with CPP (68%) had idiopathic PP, while pathological causes were found in (50%) of boys. The commonest cause of PPP was congenital adrenal hyperplasia (42%) and chronic hypothyroidism (26%). In conclusion, this study showed that precocious Puberty is a common endocrine problem in our center. The etiology of CPP was idiopathic in the majority of girls while it was caused by CNS pathology in most of the boys in this cohort. Peripheral precocious puberty is not that rare and mainly caused by congenital adrenal hyperplasia or hypothyroidism.

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). The available radiological, clinical and laboratory records of all children with confirmed GH deficiency by dynamic testing who had MRI brain were reviewed. A total of 129 patients were diagnosed with GH deficiency and had MRI brain performed. Isolated GH deficiency (IGHD) was diagnosed in 118 (91.5%) and multiple pituitary hormone deficiency (MPHD) in 11 (8.5%) patients. Most children with IGHD had normal MRI findings (n = 86/118), while 14/118 had hypoplasia of the anterior pituitary and 11/118 had aplasia of the anterior pituitary. Most of the children with MPHD (6/11) showed anterior pituitary hypoplasia or (3/11) aplasia and only 2/11 children with MPHD had normal MRI. In conclusion, our study showed a spectrum of MRI changes in children with GH deficiency.

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. OBJECTIVE: To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia. MATERIALS AND METHODS: This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989-2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients. RESULTS: During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes. CONCLUSION: A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.

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. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10,000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because of high consanguineous marriages.

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.

Successful treatment of gastrointestinal basidiobolomycosis with voriconazole without surgical intervention.

Basidiobolomycosis is a rare disease due to fungus Basidiobolus ranarum, an environmental saprophyte that is found worldwide, though mainly reported in the tropical and subtropical regions. Basidiobolomycosis is an unusual fungal skin infection, rarely involves the gastrointestinal (GI) tract. Most of the cases of paediatric GI basidiobolomycosis (GIB) were reported from the southern region of Saudi Arabia. We report an 11-year-old Saudi boy. He presented with a huge right lower quadrant abdominal mass and marked eosinophilia. Abdominal computed tomography scan revealed a large caecal mass. A biopsy was taken and it showed transmural granulomatous inflammation. A diagnosis of GIB was confirmed by specific features in histopathology. Most of the reported paediatric cases with GIB required adjuvant therapy of antifungal and surgical resection. In our case, treatment with voriconazole alone for 1 year was successful with complete recovery and with no recurrence after a year of discontinuing the treatment.

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". The answers to these queries are highlighted, in the present article, with other aspects of treatment of children with TBI. This article discusses different worldwide-accepted approaches for managing children with TBI, and places special emphasis on the issue of "indications for a head CT scan".

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. Ultrasonograpy is the primary modality for demonstrating internal organs while genitography is used to assess the uterus, vagina, and any fistulas or complex tracts. Magnetic resonance imaging (MRI) is used as an adjunct modality to assess the internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychological development of children with ambiguous genitalia.

Overview of diagnosis, management and outcome of congenital hypothyroidism: A call for a national screening programme in Sudan.

Congenital hypothyroidism (CH) is the commonest preventable cause of mental retardation in children worldwide. It continued to be a major health problem amongst Sudanese children. The lack of a screening programme in Sudan may be the major factor of missing the diagnosis in newborns with such a condition that can present very subtle clinically, yet with poor neurodevelopmental consequences. The outcome is very good when the condition is noticed early (in the first 2 - 3 weeks of life). However, the prognosis is guarded when the diagnosis is delayed, with a squeal of different degrees of developmental delay depending on the severity of the condition. In this overview, we tried to highlight the important issues of screening, diagnosis and outcome with and without early management, worldwide. We thereby send a call out for all paediatricians and endocrine clinicians who work locally or outside Sudan to collaborate with the Sudanese Society of Paediatrician as well as other stakeholders in Sudan to help establishing a national screening programme for all common and preventable causes of childhood illnesses which has devastating consequences such as CH.

A review and practical application of evidence based medicine (EBM): Testicular adrenal rest tumour.

Nowadays, Medical practice is largely based on the best available evidence. However, the evidence may not always be readily available and clinician and/or other health allied professionals may need to learn how to search for it. This article gives highlights on the very vast and growing subject of evidence based medicine (EBM), followed by a practical application of searching for it in the real life, in a situation when the available evidence is limited.