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.

Substantial reduction in hospital stay of children and adolescents with diabetic ketoacidosis after implementation of Clinical Practice Guidelines in a university hospital in Saudi Arabia.

RATIONALE, AIMS AND OBJECTIVES: We aimed to determine the effect of Clinical Practice Guideline (CPG) implementation on length of hospital stay of children and adolescents with diabetic ketoacidosis (DKA). METHODS: This was a 6-year (2008-2014) case-control retrospective study conducted at King Khalid University Hospital, Riyadh, that compared patients with DKA managed using CPG with those treated before CPG implementation. RESULTS: There were 63 episodes of DKA in 41 patients managed using CPG compared with 40 episodes in 33 patients treated before implementation of CPG. Baseline characteristics of the 2 groups were similar (age, sex, newly diagnosed patients, recurrent DKA, DKA severity, and mean glycosylated hemoglobin). The mean length of hospital stay (±SD) was 68.6 ± 53.1 hours after implementation of CPG compared with 107.4 ± 65.6 hours before implementation (P < .001). The reduction in length of hospital stay equals to 1700 bed days saved per year per 1000 patients. CONCLUSIONS: Implementation of CPG for DKA decreased the length of hospital stay.

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. A retrospective hospital based study was conducted at King Khalid University Hospital, Riyadh, Saudi Arabia, to determine the thyroid status of patients with SSS attending the hospital between 1990 and 2015. Data were extracted from the medical records of patients diagnosed with Sanjad-Sakati syndrome with special emphasis on the clinical features, thyroid function, thyroid antibodies, molecular studies and other relevant investigations. A total of 18 patients with a diagnosis of Sanjad-Sakati Syndrome based on typical clinical features and low parathyroid hormone, were evaluated. Furthermore, molecular study was available on 15 patients; all had homozygous deletion of 12 bp (155-166) in exon 3 of the TCBE gene. In 6 patients the thyroid functions were abnormal (one patient with overt hypothyroidism and five patients with sub clinical hypothyroidism). Thyroid autoantibodies were positive in 4 patients. In conclusion, one third of this cohort with SSS had abnormal thyroid function test attributed mainly to autoimmune thyroiditis. Therefore, we recommend routine screening of patients with SSS for thyroid function and autoimmune antibodies during follow up.

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.

Biochemical studies in patients with hyperinsulinaemic hypoglycaemia.

Hyperinsulinaemic hypoglycaemia (HH) is characterised by the dysregulated secretion of insulin from the pancreatic ß-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. There have been no previous studies assessing the various biochemical alterations at the time of hypoglycaemia in relation to the severity of the hypoglycaemia. Biochemical and clinical data were collected on 90 neonates (gestational age range, 32-42 weeks) with a diagnosis of HH [(based on glucose requirement > 8 mg/kg/min) and the biochemical profile of insulin action (low beta-hydroxybutyrate and fatty acid concentrations)] who had undergone fasting studies. The results showed that (a) the serum insulin level measured at the time of hypoglycaemia had no correlation with the severity of hypoglycaemia, (b) the serum insulin level was undetectable despite severe hypoglycaemia in a significant proportion of patients, (c) there was no correlation between the birth weight and the insulin level at the time of hypoglycaemia, (d) the suppression of ketogenesis was more marked than that of the non-esterified fatty acids. This study suggests that the diagnosis of HH should not rely solely on a raised serum insulin level at the time of hypoglycaemia but on the constellation of clinical and biochemical findings.

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.

Short stature in children: Pattern and frequency in a pediatric clinic, Riyadh, Saudi Arabia.

Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to determine the pattern of short stature among patients referred to an endocrine pediatric clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia and to ascertain the aetiological profile of short stature. This is a retrospective review of patients referred to a pediatric endocrine clinic with short stature during the period January 1990 and December 2009. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count and thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed when necessary. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period under review, hundred and ten patients were evaluated for short stature. Their age ranged from 2 years and six months to 4 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 57 (51.8%) patients, while in the other 53 (48.2%) patients, variable endocrine and nutritional causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.