Anti-Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.

Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH. Karyotype results were obtained from patients' records. Serum AMH was measurable in 12 TS patients (24%). The lowest frequency of measurable AMH was in patients with a karyotype of 45,X. The measurable AMH was associated with spontaneous breast development (p = .003) and spontaneous menarche (p = .001). AMH correlated negatively with FSH (r = -.846, p = .000) and LH (r = -.83, p = .034). GH therapy increased the odds of having measurable AMH in TS girls (p = .002). In conclusion, AMH was associated with karyotype, spontaneous pubertal development, LH, and FSH in TS girls and may serve as a useful marker of ovarian function and ongoing follicular development in prepuberty.

Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life.

Hyperandrogenemia in male autistic children and adolescents: relation to disease severity.

BACKGROUND: It has been suggested that autistic patients have elevated blood androgens, and although signs of precocious puberty have been reported in autistic patients, such a relation has not yet been clarified. OBJECTIVES: To assess serum androgen levels in a group of Egyptian male autistic children and adolescents and their relation to disease severity. In addition, the risk for association of androgens with autism was estimated. METHODS: In comparison to 20 controls, 30 male autistic children were studied. All subjects were subjected to clinical evaluation, intelligence quotient (IQ) assessment and measurement of serum free testosterone (FT), dehydroepiandosterone (DHEA) and Δ4-androstenedione (Δ4-A). RESULTS: Androgens were higher in autistic patients than in controls and increased with increased autistic severity. Of the patients, 11 (36.66%) had high FT, 9 (30%) had high DHEA, 12 (40%) had high Δ4-A and 8 (26.66%) showed elevation of all androgen levels. FT (OR: 38.45, 95% CI: 2.14-688.93, p=0.013) and Δ4-A (OR: 13.6, 95%CI: 2.25-22.89, p=0.04) had a significant risk for association with autism. CONCLUSIONS: Hyperandrogenemia is prevalent in autistic patients and increases with autistic severity. Thus, androgen levels should be assessed in autistic patients with signs of early puberty. Further studies are warranted regarding trials of anti-androgen therapy in such patients.

Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype.

Our study aimed to investigate: the prevalence of autoantibodies related to organ-specific disease; the prevalence of some autoimmune diseases (AID) in Egyptian Turner syndrome (TS) patients; and the association of autoimmunity with patients' karyotypes. Eighty TS patients were subjected to history, auxological assessment and measurement of antithyroid peroxidase antibody (ATPOAb), antithyroglobulin antibody (ATGAb), anti-tissue transglutaminase IgA antibodies (ATTIgAAb), anti-glutamic acid decarboxylase-65 antibodies (GAD-65-Ab) and anti-adrenal cortex antibodies (AACAb). Of the 80 TS patients, 54 (67.5%) were seropositive for one or more autoantibodies. Thirty-five percent were positive for ATPOAb, 15% for ATGAb, 12.5% for ATTIgAAb, 3.75% for Anti-GAD-65Ab and 1.25% for AACAb. There was a non-significant association between the 45,X karyotype and overall prevalence of autoantibodies (p=0.20), while IsoXq was associated with increased prevalence of ATPOAb (p<0.01), ATGAb (p=0.01) and anti-GAD-65Ab (p=0.02). Thus, female TS patients face a high prevalence of autoimmunity and associated AID.

Reduced serum concentrations of 25-hydroxy vitamin D in Egyptian patients with systemic lupus erythematosus: relation to disease activity.

BACKGROUND: Recently, vitamin D deficiency has been implicated as a potential environmental factor triggering some autoimmune disorders, including systemic lupus erythematosus (SLE)). In addition, patients with SLE, especially those with increased disease activity, were suggested to have decreased vitamin D level, suggesting that vitamin D might play a role in regulating autoantibody production. MATERIAL/METHODS: To assess 25 hydroxy vitamin D [25(OH)D] status in Egyptian patients with SLE and its relation to disease activity. Clinical evaluation and assay of serum 25(OH)D, total calcium, phosphorous, alkaline phosphatase (ALP) and parathyroid hormone (PTH) were done on 60 SLE patients in comparison to 60 matched-healthy subjects. Serum 25(OH)D levels <30 and 10 ng/ml were defined as vitamin D insufficiency and deficiency, respectively. RESULTS: Serum 25(OH)D was significantly lower in patients than in controls (26.33 ± 12.05 vs. 42.66 ± 9.20 respectively, p < 0.0001), with 13.30% and 60% being deficient and insufficient, respectively. Serum 25(OH)D levels were lower with increased disease activity (p = 0.03) and frequency of photosensitivity(p = 0.02) and photoprotection (p = 0.002). Systemic lupus erythematosus disease activity index (SLEDAI) score (OR: 2.72, 95% CI: 1.42-5.18, P = 0.002), photosensitivity (OR: 3.6, 95% CI: 1.9-6.8, P < 0.01) and photoprotection (OR: 6.7, 95% CI: 2.9-8.8, P < 0.001) were significant predictors of 25(OH)D level among SLE cases. CONCLUSIONS: Low vitamin D status is prevalent in Egyptian SLE patients despite plentiful exposure to sunlight throughout the year, and its level is negatively correlated to disease activity. Future studies looking at a potential role of vitamin D in the pathophysiology and treatment of SLE are warranted.

Monitoring Haematocrit in Paediatric Patients Receiving Testosterone Therapy in Arab Countries.

Objectives Testosterone is the main agent used to induce puberty in boys in Arab countries. It is recommended to monitor haematocrit before and during androgen replacement. However, data from single centre studies indicated that this recommendation is rarely practiced by paediatricians compared to adult physicians. The aim of this study is to evaluate the monitoring of haematocrit of patients on Testosterone therapy by paediatric endocrinologists practicing in Arab countries. Methods A cross-sectional study using an online survey that was sent to all members of the Arab Society for Paediatric Endocrinology and Diabetes (ASPED), who they practice in all Arab countries. The study was carried out between July and October 2019. Ethical approval was granted by ASPED council in May 2019 (MRE2019-02Q).  Results One hundred four physicians responded to the survey from 17 countries. 81/104 (77.8%) answered the question about Testosterone monitoring (42 paediatric endocrinologists, 11 general paediatrician consultants with interest in endocrine, 16 specialists, four fellows and eight residents). Of the 81 responders 18 clinicians (22.2%) thought of monitoring the haematocrit; 15 (18.5%) thought no laboratory monitoring is needed at all. Conclusion The survey indicated that most paediatric endocrinologists in Arab countries do not monitor haematocrit in patients on testosterone replacement and majority are not aware that secondary erythrocytosis can result from androgen therapy. Raising the awareness on monitoring haematocrit during androgen replacement therapy is needed especially when reaching the adult dose.

Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village .

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone. In this analysis, performed in the 22 EMRO countries and territories plus Algeria, we review which countries offer a neonatal screening programme for CAH and describe the barriers and opportunities to access oral fludrocortisone and oral and injectable hydrocortisone. Neonatal CAH screening was only available nationally in Qatar, Kuwait and partially in Lebanon and Saudi Arabia. We reviewed the national lists of essential medicines (NEMLs) and found that 13/23 (57%) countries included fludrocortisone and 18/23 (78%) included oral hydrocortisone. Fludrocortisone was not included by any of the low-income countries and oral hydrocortisone was only included by one low-income country. We then contacted paediatric endocrinologists in each country to assess perceived availability of these medicines. Overall, there was a relatively good consistency between inclusion of fludrocortisone and hydrocortisone in the NEML and their actual availability in a country. We propose several mechanisms to improve access, including prequalification by the WHO, a common registration process for groups of countries, pooled procurement, working with local pharmaceutical companies, special access status for medicines not yet registered in a country and compounding. We suggest that access to medicines requires a collaboration between health professionals, families of patients, health authorities, pharmaceutical companies and the WHO.

The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.

The aims of the 2021 European Training Requirements (ETR) in Paediatric Endocrinology and Diabetes (PED) are to (1) provide standards to harmonize training programmes in PED between different European countries, (2) establish clearly defined standards of knowledge and skills required to practice PED at the tertiary care level, (3) foster the development of a network of competent tertiary care centres for PED in Europe and globally, and (4) improve the quality of care for children and adolescents requiring PED services. This ETR in PED specifies the requirements for training institutions, trainers, and trainees. It also provides the detailed syllabus/core content that trainees are expected to achieve in order to become competent independent clinicians in PED. References to consensus guidelines produced and/or endorsed by ESPE are included. The target users are trainees in PED, trainers, and all involved with quality assurance and accreditation. The process to develop and approve this 2021 ETR has been rigorous and involved trainees and consultants in paediatric and adult Endocrinology, ESPE (Syllabus Task Force, Education and Training Committee, Council), European Academy of Paediatrics (Tertiary Care Council, Assembly), European Board of Paediatrics, and Union of European Medical Specialists. Implementing the ETR will complement professional regulatory requirements for postgraduate training in PED in different countries and allow harmonizing standards across Europe. ETR is publicly available at www.eurospe.org/education/education-training-syllabus and at https://www.uems.eu/__data/assets/pdf_file/0007/133990/UEMS-2021.17-European-Training-Requirement-in-Paediatric-Endocrinology.pdf.

Screening of Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme gene.

BACKGROUND: /aims: The role of angiotensin-converting enzyme (ACE) gene polymorphism in the development of obesity and hypertension in children has not been widely studied. We aimed to screen Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in the ACE gene. METHODS: One hundred forty-two children and adolescents were included (70 with simple obesity and 72 controls). Blood pressure was measured, and anthropometric parameters were assessed in all included children and adolescents. Fasting lipid profile, fasting glucose, and insulin were measured. DNA extraction and ACE I/D polymorphism genotyping were also performed. RESULTS: Obese children had a higher frequency of DD genotype (30% in obese versus 11.1% in controls, P = .01) and D alleles (61.8% in obese versus 48.6% in controls, P = .01). Obese children with hypertension and prehypertension had higher frequency of DD genotype than II genotype and higher D alleles than I alleles. DD genotype and D allele were independently associated with hypertension (OR: 9.86 and 11.57, respectively, P < .001), while dyslipidemia and insulin resistance were not associated with the ACE I/D gene polymorphism. CONCLUSION: DD genotype and D-allele of the ACE gene polymorphism were associated with obesity and with hypertension and pre-hypertension in Egyptian children.

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.

Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014. The age of the studied patients ranged from 2 months to 39 years. The patients exhibited various presentations, including ambiguous genitalia, undescended testis, hypogonadism, short stature with Turner manifestations, primary or secondary amenorrhea, primary infertility, edema of the dorsum of the hands and feet, and dysmorphic features. The patients were subjected to detailed clinical examination, pubertal staging, and cytogenetic analysis. Our study reported a wide karyotypic diversity and a high frequency of sex chromosome DSD, reaching 44.44% (48/108). In conclusion, we showed a high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity. The most frequent sex chromosome DSD detected among patients of the present study was Turner syndrome and variants (52.08%; 25/48) followed by Klinefelter syndrome and variants (43.75%; 21/48). Further long term studies are necessary for accurate detection of frequencies of different types of sex chromosomal anomalies and associated phenotypes.

Serum Chemerin in Obese Children and Adolescents Before and After L-Carnitine Therapy: Relation to Nonalcoholic Fatty Liver Disease and Other Features of Metabolic Syndrome.

BACKGROUND AND AIMS: Chemerin plays an important role in metabolic syndrome (MetS) including nonalcoholic fatty liver disease (NAFLD). L-carnitine (LC) may reduce plasma glucose, lipid profile, and improve liver function. The aim of the study was to assess serum chemerin in obese children with suspected NAFLD, the effect of LC on NAFLD grade, chemerin and metabolic profile. METHODS: Fifty obese children were compared to 50 controls. All were subjected to anthropometric assessment, liver function, fasting lipid profile, glucose/insulin (G/I) ratio, homeostasis model assessment (HOMA) index, serum chemerin and abdominal ultrasonography before and after LC. RESULTS: Serum chemerin was higher in cases than controls. Eighty percent of cases had NAFLD with increase in chemerin as severity of NAFLD increased. There was a decrease in frequency of NAFLD and its severity after LC therapy. CONCLUSIONS: Noninvasive monitoring of serum chemerin in obese patients with suspected NAFLD could be used to diagnose NAFLD. LC supplementation is effective in treatment of NAFLD and reducing chemerin.

A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.

BACKGROUND: Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete Bamforth-Lazarus syndrome: congenital hypothyroidism (CH) with thyroid dysgenesis (usually athyreosis), cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. Here, our objective was to evaluate potential functional consequences of a FOXE1 mutation in a patient with a similar clinical phenotype. METHODS: FOXE1 was sequenced in eight patients with thyroid dysgenesis and cleft palate. Transient transfection was performed in HEK293 cells using the thyroglobulin (TG) and thyroid peroxidase (TPO) promoters in luciferase reporter plasmids to assess the functional impact of the FOXE1 mutations. Primary human thyrocytes transfected with wild type and mutant FOXE1 served to assess the impact of the mutation on endogenous TG and TPO expression. RESULTS: We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (athyreosis, cleft palate, and partial choanal atresia). This new mutation located within the forkhead domain was inherited from the heterozygous healthy consanguineous parents. In vitro functional studies in HEK293 cells showed that this mutant gene enhanced the activity of the TG and TPO gene promoters (1.5-fold and 1.7-fold respectively vs. wild type FOXE1; p<0.05), unlike the five mutations previously reported in Bamforth-Lazarus syndrome. The gain-of-function effect of the FOXE1-p.R73S mutant gene was confirmed by an increase in endogenous TG production in primary human thyrocytes. CONCLUSION: We identified a new homozygous FOXE1 mutation responsible for enhanced expression of the TG and TPO genes in a boy whose phenotype is similar to that reported previously in patients with loss-of-function FOXE1 mutations. This finding further delineates the role for FOXE1 in both thyroid and palate development, and shows that enhanced gene activity should be considered among the mechanisms underlying Bamforth-Lazarus syndrome.

Iron homeostasis and serum hepcidin-25 levels in obese children and adolescents: relation to body mass index.

BACKGROUND/AIMS: The etiology of the hypoferremia of obesity is unclear. Hepcidin is the body's main regulator of systemic iron (Fe) and has been reported to be elevated in obese patients. Thus, we aimed to assess Fe status and serum hepcidin-25 levels and their relationship with body mass index (BMI) in obese Egyptian children and adolescents. METHODS: Fifty obese children were compared to 50 age-, sex- and pubertal stage- matched controls. All subjects were subjected to history and anthropometric assessment and measurement of serum Fe, total iron binding capacity (TIBC), ferritin, transferrin saturation (TS), soluble transferrin receptor (sTfR) and hepcidin. RESULTS: Fe, TS and TIBC were lower, while ferritin, sTfR and hepcidin-25 were higher in obese patients than controls. BMI standard deviation score (SDS) correlated negatively with Fe (r = -0.82, p < 0.01), TS (r = -0.79, p = 0.02) and TIBC (r = -0.69, p = 0.02), and positively with ferritin (r = +0.73, p < 0.001), sTfR (r = +0.80, p < 0.01) and hepcidin (r = +0.95, p < 0.001). Higher BMI SDS and hepcidin were risk factors for iron deficiency (ID). CONCLUSIONS: Hypoferremia and elevated hepcidin-25 are prevalent in obese children and correlated with BMI SDS. The connection between hepcidin and inflammation could explain the association of ID with obesity.

Iodine deficiency in Egyptian autistic children and their mothers: relation to disease severity.

BACKGROUND AND AIMS: Because autism may be a disease of early fetal brain development, maternal hypothyroxinemia (HT) in early pregnancy secondary to iodine deficiency (ID) may be related to etiology of autism. The aim of the study was to assess the iodine nutritional status in Egyptian autistic children and their mothers and its relationship with disease characteristics. METHODS: Fifty autistic children and their mothers were studied in comparison to 50 controls. All subjects were subjected to clinical evaluation, measurement of urinary iodine (UI), free triiodothyronine (fT3), free tetraiodothyronine (fT4) and thyroid-stimulating hormone (TSH) along with measurement of thyroid volume (TV). In addition, electroencephalography (EEG) and intelligence quotient (IQ) assessment were done for all autistic children. RESULTS: Of autistic children and their mothers, 54% and 58%, respectively, were iodine deficient. None of the control children or their mothers was iodine deficient. UI was lower among autistic patients (p <0.001) and their mothers (p <0.001). Childhood Autism Rating Scale (CARS) score correlated negatively with UI (r = -0.94, p <0.001). Positive correlations were detected between autistic patients and their mothers regarding UI (r = 0.88, p <0.001), fT3 (r = 0.79, p = 0.03), fT4 (r = 0.91, p <0.001) and TSH (r = 0.69, p = 0.04). Autism had a significant risk for association with each of low UI (OR: 9.5, 95% CI: 2.15-33.8, p = 0.02) and intake of noniodized salt (OR: 6.82, 95% CI = 1.36-34.27, p = 0.031). CONCLUSIONS: ID is prevalent in Egyptian autistic children and their mothers and was inversely related to disease severity and could be related to its etiology.

Effect of zinc supplementation on growth hormone-insulin growth factor axis in short Egyptian children with zinc deficiency.

BACKGROUND: The relationship between zinc (Zn) and growth hormone-insulin growth factor (GH-IGF) system and how Zn therapy stimulates growth in children has not been clearly defined in humans. Thus, we aimed to assess GH-IGF axis in short children with Zn deficiency and to investigate the effect of Zn supplementation on these parameters. METHODS: Fifty pre-pubertal Egyptian children with short stature and Zn deficiency were compared to 50 age-, sex-, and pubertal stage- matched controls. All subjects were subjected to history, auxological assessment and measurement of serum Zn, IGF-1, insulin growth factor binding protein-3 (IGFBP-3); and basal and stimulated GH before and 3 months after Zn supplementation (50 mg/day). RESULTS: After 3 months of Zn supplementation in Zn-deficient patients, there were significant increases in height standard deviation score (SDS, P = 0.033), serum Zn (P < 0.001), IGF-1 (P < 0.01), IGF-1 standard deviation score (SDS, P < 0.01) and IGFBP-3 (P = 0.042). Zn rose in all patients but reached normal ranges in 64 %, IGF-1 levels rose in 60 % but reached normal ranges in 40 % and IGFBP-3 levels rose in 40 % but reached reference ranges in 22 %. Growth velocity (GV) SDS did not differ between cases and controls (p = 0.15) but was higher in GH-deficient patients than non-deficient ones, both having Zn deficiency (p = 0.03). CONCLUSION: Serum IGF-1 and IGFBP-3 levels were low in short children with Zn deficiency, and increased after Zn supplementation for 3 months but their levels were still lower than the normal reference ranges in most children; therefore, Zn supplementation may be necessary for longer periods.

Thyroid and Hepatic Haemodynamic Alterations among Egyptian Children with Liver Cirrhosis.

Background. Alterations in thyroid hormones regulation and metabolism are frequently observed in patients with cirrhosis. Aims. To assess alterations in thyroid volume (TV), haemodynamics, and hormones in patients with cirrhosis and their relation to hepatic arterial haemodynamics, and disease severity. Methods. Forty cirrhotic patients were compared to 30 healthy subjects regarding TV, free triiodiothyronine (fT(3)), free tetraiodothyronine (fT(4)), thyroid stimulating hormone (TSH), and pulsatility and resistance indices in the inferior thyroid and hepatic arteries. Results. TV (P = 0.042), thyroid volume standard deviation score (TVSDS, P = 0.001), Inferior Thyroid Artery Pulsatility Index (ITAPI, P = 0.001), Inferior Thyroid Artery Resistance Index (ITARI, P = 0.041), Hepatic Artery Pulsatility Index (HAPI, P = 0.029) and Hepatic Artery Resistance Index (HARI, P = 0.035) were higher among cases being highest in Child-C patients. FT(3) was lower in patients than controls (P = 0.001) and correlated negatively with ITAPI (r = -0.71, P = 0.021) and ITARI (r = -0.79, P = 0.011). ITAPI and ITARI correlated directly with HAPI and HARI (r = 0.62, P = 0.03, and r = 0.42, P = 0.04, resp.). Conclusions. Thyroid is involved in the haemodynamic alterations of cirrhosis. Routine study of thyroid by Doppler and assessment of thyroid functions should be performed in patients with cirrhosis to offer proper treatment if needed.

Growth hormone deficiency in children and adolescents with cerebral palsy: relation to gross motor function and degree of spasticity.

Children with Cerebral Palsy (CP) often have poor linear growth during childhood with short final height. Thus, we aimed to assess serum growth hormone (GH), insulin like growth factor-1 (IGF-1) and insulin like growth factor binding protein-3 (IGFBP-3) levels among CP patients and their relation to each of gross motor function and degree of spasticity. Fifty CP children and adolescents were studied in comparison to 50 healthy age-, sex- and pubertal stage-matched children and adolescents. All subjects were subjected to clinical evaluation, Intelligence Quotient (IQ) assessment and measurement of serum GH, IGF-1 and IGFBP-3. All auxological and hormonal parameters were significantly lower among cases. Fifty two% of cases were GH-deficient and 62% had reduced IGF-land IGFBP-3 levels. Gross Motor Function Measure- 88 (GMFM-88) score correlated negatively with each of basal (r = -0.71, p = 0.02) and peak stimulated GH (r =-0.88, p = <0.001); IGF-1 (r = -0.64, p = 0.04) and IGFBP-3 (r = -0.69, p = 0.031). There were significant negative correlations between the degree of spasticity assessed by Modified Ashworth Scale and each of basal (r = -0.61, p = 0.032) and peak stimulated GH (r = -0.78, p = 0.01); IGF-1 (r = -0.65, p = 0.041) and IGFBP-3 (r = -0.62, p = 0.035). Growth Hormone Deficiency (GHD) is prevalent in children with CP and could be one of the causes of their short stature.

Basal and adrenocorticotropic hormone stimulated plasma cortisol levels among Egyptian autistic children: relation to disease severity.

BACKGROUND: Autism is a disorder of early childhood characterized by social impairment, communication abnormalities and stereotyped behaviors. The hypothalamic-pituitary-adrenocortical (HPA) axis deserves special attention, since it is the basis for emotions and social interactions that are affected in autism. AIM: To assess basal and stimulated plasma cortisol, and adrenocorticotropic hormone (ACTH) levels in autistic children and their relationship to disease characteristics. METHODS: Fifty autistic children were studied in comparison to 50 healthy age-, sex- and pubertal stage- matched children. All subjects were subjected to clinical evaluation and measurement of plasma cortisol (basal and stimulated) and ACTH. In addition, electroencephalography (EEG) and intelligence quotient (IQ) assessment were done for all autistic children. RESULTS: Sixteen% of autistic patients had high ACTH, 10% had low basal cortisol and 10% did not show adequate cortisol response to ACTH stimulation. Autistic patients had lower basal (p = 0.032) and stimulated cortisol (p = 0.04) and higher ACTH (p = 0.01) than controls. Childhood Autism Rating Scale (CARS) score correlated positively with ACTH (r = 0.71, p = 0.02) and negatively with each of basal (r = -0.64, p = 0.04) and stimulated cortisol (r = -0.88, p < 0.001). Hormonal profile did not differ in relation to EEG abnormalities, IQ and self- aggressive symptoms. CONCLUSIONS: The observed hormonal changes may be due to a dysfunction in the HPA axis in autistic individuals. Further studies are warranted regarding the role of HPA axis dysfunction in the pathogenesis of autism.

Effect of inhaled corticosteroids on growth and puberty in Egyptian asthmatic children and adolescents.

Growth suppression and delayed puberty may be major concerns for Inhaled Corticosteroids (ICS) treatment in children. Thus, we aimed to assess the effect of long-term ICS on growth and pubertal status in 30 asthmatic children and adolescents in comparison to 20-matched healthy subjects. Auxological measurements, Tanner staging and bone age assessment were performed. Measurements of basal and Lutenizing hormone releasing hormone (LHRH) stimulated follicle stimulating hormone (FSH) and Lutenizing hormone (LH) were done for patients only. In addition, pelvic ultrasound for measurements of uterine length and right ovarian volume was done for females aged > 11 years. Patients' height, bone age and their Standard Deviation Scores (SDSs) were significantly lower, while weight SDSs were significantly higher than controls. ICS at doses > 400 microg/day negatively affected height and its SDS (OR: 8.5, 95% CI: 2.15-33.8), whereas the use of ICS for > 1 year significantly affected all auxological parameters with a particular risk on height SDS (OR: 9, 95% CI = 3.10-10.64) and weight for height SDS (OR: 6.82, 95% CI: 1.36-34.27). Significantly lower stimulated gonadotropins were encountered at doses > 400 microg/day, while a duration > 1 year was associated with significantly lower basal and stimulated gonadotropins. Logistic analysis revealed that the use of ICS for > 1 year carried the highest risk of association with low stimulated FSH (OR: 5.80, 95%, CI: 1.54-33.70) and LH (OR: 8.31, 95% CI: 1.83-50.47). In conclusion, ICS at doses > 400 microg/day carry a significant risk of retarding height of asthmatic children while their continuous use for > 1 year carries significant risks of short stature, weight gain and delayed puberty.