Triple A syndrome presenting with myopathy: An Egyptian patient

Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insuffi ciency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability (making it 4A syndrome). Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia.In this paper we report a 13 year old boy with Allgrove syndrome presentingwith muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before.Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency

Study of amino acid disorders among a high risk group of Egyptian infants and children

Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal period) and children suspected of having inborn errors of metabolism with unexplained mental retardation. The frequency pattern of the various amino acid disorders, in a group of selected infants and children was done to document the prevalence of various amino acid disorders among Egyptian children. Patients and Method: In this study, recent methods to investigate such disorders have been carried out by amino acid analyzer which detects levels of amino acids. Extended metabolic screen which also detects amino acid disorders, organic acid disorders and the defects of fatty acid oxidation has been carried out. These recent methods have therefore the potential of yielding information on the physiological and pathophysiological status of different metabolic pathways, as well as their interrelationship. Results: The total number of cases attending the outpatient clinic during the period of study were 1343 index cases, among them 50 index cases (3.72%) were suspected of having inborn errors of amino acid and, 20 cases (40%) of them have confirmed positive inborn errors of amino acid metabolism. Concerning the confirmed 20 cases, their ages ranged from 5 days to 11 years with a mean of 54.75±33.09 months with equally sex distribution. The overall consanguinity rate recorded was 65%, while the family history of the similarly affected cases was 30%. The main clinical findings included mental retardation 85%, convulsions 40%, and hypo pigmentation 75%, micro-cephally 15%. Associated anomalies were present in 35% of cases. Among them eye anomalies were the most common (8%). Conclusion: The prevalence of amino-acido-pathies during the period of the study was 1.5% (Of 20 studied cases), among them PKU was found to be the commonest amino-acido-pathies 1.11%, while the remaining diagnosed cases representing 0.07% for each. Keywords: Amino acid disorders, high risk, children Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 173-19

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry.

OBJECTIVE: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. DESIGN: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. METHODS: Data was collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 - 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement was analyzed from 4174 patient visits. RESULTS: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0 - 14.5) mg/ m2/ day at age 1 - 8 years and the highest dose of 14.0 (11.6 - 17.4) mg/ m2/ day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (p<0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. CONCLUSIONS: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children

A validated normative model for human uterine volume from birth to age 40 years

Transabdominal pelvic ultrasound and/or pelvic Magnetic Resonance Imaging are safe, accurate and non - invasive means of determining the size and configuration of the internal female genitalia. The assessment of uterine size and volume is helpful in the assessment of many conditions including disorders of sex development, precocious or delayed puberty, infertility and menstrual disorders. Using our own data from the assessment of MRI scans in healthy young females and data extracted from four studies that assessed uterine volume using transabdominal ultrasound in healthy females we have derived and validated a normative model of uterine volume from birth to age 40 years. This shows that uterine volume increases across childhood, with a faster increase in adolescence reflecting the influence of puberty, followed by a slow but progressive rise during adult life. The model suggests that around 84% of the variation in uterine volumes in the healthy population up to age 40 is due to age alone . The derivation of a validated normative model for uterine volume from birth to age 40 years has important clinical applications by providing age-related reference values for uterine volume.Publisher PDFPeer reviewe