Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology.

Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively. Several access and payer barriers can face pediatric endocrinologists during the diagnosis and treatment of GHD in Saudi Arabia. Insurance coverage policies can restrict access to diagnostic tests for GHD and recombinant human growth hormone (rhGH) due to their high costs and lack of gold-standard criteria. Some insurance policies may limit the duration of treatment with rhGH or the amount of medication covered per month. This consensus article gathered the insights of pediatric endocrinologists from Saudi Arabia to reflect the access and payer barriers to the diagnostic tests and treatment options of children with short stature. We also discussed the current payer-related challenges endocrinologists face during the investigations of children with short stature. The consensus identified potential strategies to overcome these challenges and optimize patient management.

Congenital lipoid adrenal hyperplasia in a Saudi infant.

Summary: Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family's skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin. Learning points: Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates. In such patients, pediatricians should not wait until the neonate develops an adrenal crisis. A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.

Ovarian cell tumor in a child with neurofibromatosis type 1.

Juvenile granulosa cell ovarian tumor is a rare cause ofpseudo-precociouspuberty. We report a case of a 6-year-old female with neurofibromatosis type 1 (NF1), associated with pseudo-precocious puberty (PPP). A thorough workup revealed a large multi-cystic right ovarian mass, which turned out to be a juvenile granulosa cell tumor (JGCT). This report documented a rare case of PPP caused by JGCT in a child with NF1. Verbal consent was taken from the family.

Résumé La tumeur ovarienne juvénile à cellules de la granulosa est une cause rare de puberté pseudo-précoce. Nous rapportons le cas d'une fillette de 6 ans atteinte de neurofibromatose de type 1 (NF1), associée à une puberté pseudo-précoce (PPP). Un bilan approfondi a révélé une grande masse ovarienne droite multikystique, qui s'est avérée être une tumeur juvénile des cellules de la granulosa (JGCT). Ce rapport a documenté un cas rare de PPP causé par JGCT chez un enfant atteint de NF1. Le consentement verbal a été recueilli auprès de la famille.. Mots-clés: Cellule de la granulosa, juvénile, neurofibromatose, tumeur ovarienne, puberté précoce.

Extensive subcutaneous fat necrosis complicated by neonatal hypercalcaemia.

subcutaneous fat necrosis is a benign and often self-limiting inflammatory disorder experienced by newborns who were exposed to perinatal stress in the form of asphyxia, hypothermia, cord prolapse, and/or sepsis. lesions are usually benign and self-limiting, with complete resolution anticipated within a few weeks up to 6 months. they can be accompanied by multiple complications. of which the most significant and of life-threatening potential is neonatal hypocalcaemia. if not timely anticipated and adequately treated, the patient might deteriorate due to dehydration and acute renal failure. symptoms of neonatal hypercalcaemia can be variable in this age group, transcending from a nonspecific presentation of irritability, poor feeding, vomiting and constipation to the well-recognised polyuria, polydipsia, and dehydration. therapeutic options are provided through initial hyperrehydration and calcium wasting diuretics, switching feeds to a low calcium and vitamin D formula milk, institution of systemic steriods and if necessary, inititating bisphosphonate therapy in hypercalcaemia that is severe, recalcitrant to the previously mentioned treatment modalities, and/or when a rapid decrease in serum calcium levels is desired. in this report we describe a case of a 10 month old female infant with moderate neonatal hypercalcaemia as a complication of extensive SCFN manifestating by the age of 10 days and persisting into a prolonged clinical course of up to 9 months until most of the lesions were resolved.

Influence of various environmental factors on the growth of children and adolescents in Jeddah, Kingdom of Saudi Arabia.

OBJECTIVES: To evaluate the association between various environmental factors and the anthropometric measurements of children and adolescents. METHODS: This retrospective studywasperformed from September 2017 to April 2018 and included 393 children aged 2-18 years. Data were extracted through patient and/or parentinterviews and from medical records of endocrine ambulatory clinics. RESULTS: Among underweight children,the proportion of mixed-fed children was the highest, and among normal weight children, most were either bottle-fed or mixed-fed. Most overweight children were mixed-fed, and most obese children were breastfed. Underweight status was noted most commonly in children playing videogames for <2 hours/day, followed by those playing>4 and 2-4 hours/day. Normal weight was noted most commonly in those playing for >4 hours/day, followed by those playing <2 and 2-4 hours/day. Overweight status was noted most commonly in those playing videogames for >4 hours/day, followed by those playing 2-4 and <2 hours/day. Most children playing videogames for <2 hours/day were obese. Mean BMIs were the highest in those who exercised 1-2 times/week. P-values for the association between passive smoking indoors and BMI, weight, and height were 0.045, 0.150, and 0.854, respectively. Regarding socioeconomic status, log BMI values were 1.22, 1.23, and 1.26 in low-, medium-, and high-income families, respectively (P-value, 0.001). CONCLUSION: Children who were bottle-fed in their first year of life, played video games >2 hours/day, did not exercise regularly, were exposed to indoor passive smoking, and had a high socioeconomic status had a higher BMI and weight than their counterparts. (www.actabiomedica.it).

Various causative factors and associated complications of childhood obesity in Jeddah, Western Region, Saudi Arabia.

Objective: The objective of the study was to investigate the causative factors and complications attributable to obesity in children living in Jeddah, Saudi Arabia. Methods: This is a retrospective study encompassing a sample size of 151 children and adolescents between the ages of 4 and 20 years. Data were collected through reviewing medical records, medical files on the hospital electronic system, and clinical interviews conducted with legal guardians. The date of the study was from January to June 2018, and the study was carried out in Jeddah, Western Region, Saudi Arabia. Results: Data were entered, coded, cleaned, and analyzed using the Statistical Package for the Social Sciences (IBM SPSS), version 22. The analysis was done by assessing the significance of various risk factors and sequelae in their contribution to pediatric obesity by one-way ANOVA for nominal variables of more than two categories and independent-samples t-test for the nominal variables with two categories. The sample was 47% of the male gender, whereas females made for the remaining 53%. The causation of obesity was distributed among the following factors: an unhealthy diet, a sedentary lifestyle, medications such as glucocorticoids, and complications attributed to obesity including gastroesophageal reflux, hypertension, precocious puberty, sleep apnea, psychological disturbances, and fatty liver diseases. Conclusion: Environmental factors were found to be the most predominant cause, where the majority of children were found to be leading a sedentary lifestyle, following an unhealthy diet, and skipping meals. The most recurring complications involved psychosocial and behavioral abnormalities, and among the medical consequences, gastroesophageal reflux and obstructive sleep apnea were the most prevalent.

RésuméObjectif: Étudier les facteurs de causalité et les complications imputables à l'obésité chez les enfants vivant à Djedda, en Arabie saoudite. Méthodes: Il s'agit d'une étude rétrospective couvrant un échantillon de 151 enfants et adolescents âgés de 4 à 20 ans. Les données ont été collectées à travers l'examen des dossiers médicaux, des fichiers médicaux sur le système électronique de l'hôpital et des entretiens cliniques menés avec des tuteurs légaux. La date d'étude était de janvier à juin 2018 et a été réalisée à Djeddah, dans l'ouest de l'Arabie saoudite. Résultats: Les données ont été entrées, codées, nettoyées et analysées à l'aide d'un logiciel de statistiques sociales (IBM SPSS), version 22. L'analyse a été réalisée en évaluant l'importance de divers facteurs de risque et de leurs conséquences dans leur contribution à l'obésité pédiatrique par une ANOVA à un facteur pour les variables nominales de plus de deux catégories et Test t de l'échantillon indépendant pour les variables nominales à deux catégories. L'échantillon comprenait 47% du sexe masculin alors que les femmes représentaient les 53% restants. La cause de l'obésité a été répartie entre les facteurs suivants: une alimentation malsaine, un style de vie sédentaire, des médicaments tels que les glucocorticoïdes, et les complications attribuées à l'obésité comprennent le reflux gastroesophagien, l'hypertension, la puberté précoce, l'apnée du sommeil, des troubles psychologiques et des maladies de foie grasses. Conclusion: Les facteurs environnementaux ont été la principale cause, la majorité des enfants menant une vie sédentaire, suivant un régime alimentaire malsain et sautant des repas. Les complications les plus récurrentes concernaient des anomalies psychosociales et comportementales, et parmi les conséquences médicales, le reflux gastro-oesophagien et l'apnée obstructive du sommeil étaient les plus répandus.

The effect of body mass index and gender on lipid profile in children and adolescents in Saudi Arabia.

Objectives: The objectives of this study were to study the relationship between lipid profile components among different body mass index (BMI) groups and investigate the association between gender and BMI. Methodology: This cross-sectional study included 218 children and adolescents; 104 males and 114 females. Accepted age range was from 2 to 18 years. Data were collected from February to May during the year of 2017 and were analyzed using the Statistical Package for the Social Sciences. Standard deviation (SD) for BMI was calculated based on the World Health Organization guidelines. Lipid profile results were reviewed from laboratory reports. Results: Nearly 10.6% of the study population were found to be overweight; another 22.1% were suffering from obesity, of which 7.1% were morbidly obese. Children who had high levels of low-density lipoprotein (LDL) and low levels of high-density lipoprotein (HDL) were found among higher BMI groups, with elevated cholesterol levels noted in patients of increased weight. An increase in HDL levels was noted in 71% of the children who avoided fast-food consumption. Significant gender predisposition to changes in BMI was not found (P = 0.467). Conclusion: High BMI was found to be associated with increased levels of LDL cholesterol and decreased levels of HDL cholesterol. No significant association between gender and changes in lipid profile was established (P = 0.898). Recommendation: All pediatricians must keep an open eye on overweight and obese children, routinely taking their weight measurements and screening for dyslipidemia by obtaining a full lipid profile for every child whose weight is 2 SDs above the mean.

RésuméObjectifs: Les objectifs de cette étude étaient d'étudier la relation entre les composantes de profil lipidique chez les groupes de différents corps (IMC) Indice de masse et étudier l'association entre le sexe et l'IMC. Méthodologie: Cette étude transversale comprenait 218 enfants et des adolescents ; 104 hommes et 114 femmes. Tranche d'âge accepté était de 2 à 18 ans. Données ont été recueillies entre février et mai, au cours de l'année 2017 et ont été analysées en utilisant le logiciel de statistiques pour les Sciences sociales. Écart-type (SD) pour IMC a été calculé selon les directives de l'Organisation mondiale de la santé. Par des rapports de laboratoire, les résultats du profil lipidique ont été examinées. Résultats: Près 10,6 % de la population étudiée s'est avéré pour être une surcharge pondérale ; un autre 22,1 % souffraient de l'obésité, dont 7,1 % étaient obèses morbides. Les enfants qui avaient des niveaux élevés de lipoprotéines de basse densité (LDL) et de faibles niveaux de lipoprotéines de haute densité (HDL) ont été trouvés parmi les groupes IMC élevé, avec des niveaux élevés de cholestérol a noté chez les patients de l'augmentation du poids. Une augmentation des niveaux de HDL a été notée dans 71 % des enfants qui ont évité la consommation fast food. Prédisposition significative entre les sexes à l'évolution de l'IMC n'a pas été trouvée (P = 0,467). Conclusion: IMC élevé s'est avéré pour être associés à l'augmentation des niveaux de cholestérol LDL et une diminution des taux de cholestérol HDL. Aucune association significative entre le sexe et les changements dans le profil lipidique a été créée (P = 0,898). Recommandation: Tous les pédiatres doivent garder un oeil ouvert sur les enfants en surpoids et obèses, systématiquement leurs mesures de poids et de dépistage de la dyslipidémie en obtenant un bilan lipidique complet pour tous les enfants dont le poids sont 2 SDD au-dessus de la moyenne.

Implication of Topical Steroids in the Onset of Osteoporosis.

The systemic bioavailability of steroids has long been implicated as a cause for osteoporosis (OP); however, much less is known about the effect of topical steroids on bone homeostasis. This is a case of an 11-year-old male who is a known case of generalised pustular psoriasis for 8-year duration with frequent exacerbations controlled with topical betamethasone dipropionate. He presented with generalised progressive bone pain and positive history of bone fracture. The diagnosis of OP was established on the results of DEXA, which were -2.7 SD and -2.4 SD for the lumbar spine and whole body, respectively. Although the cutoff value is the same (<-2 SD) in children, the definition of OP is more reliant on the densitometry Z score, as opposed to adults, who are approached using the T score. The element of psoriasis poses a risk for the development of OP due to the presence of a chronic inflammatory disease state that increases bone turnover. Furthermore, the compromised skin barrier and associated vasodilation seen in psoriasis enhance the absorption of topically applied agents and increase their bioavailability. Children are a targeted risk group as they are more vulnerable to the manifestation of systemic adverse affects of topically applied steroids as a result of their increased ratio of total surface area relative to their body weight and slower drug metabolism. We recommend that children undergoing long-term topical steroid therapy be screened for OP with the consideration of instituting prophylactic treatment especially in those suffering from chronic inflammatory disease states.

Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia.

BACKGROUND: The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH). METHODS: This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science. RESULTS: Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4.1% of whom presented with shock, while 14.5% had a combined presentation of both AG and a salt-losing crisis. CONCLUSIONS: CAH should be highly suspected in all females born with AG. Contrarily, affected male newborns more frequently present with a salt-losing crisis, and considering the recent institution of newborn screening in Saudi Arabia, earlier detection in these children is anticipated.

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.

Context: The etiology of primary ovarian insufficiency (POI) remains unknown in most cases. Objective: We sought to identify the genes causing POI. Design: The study was a familial genetic study. Setting: The study was performed at two academic institutions. Patients: We identified a consanguineous Yemeni family in which four daughters had POI. A brother had azoospermia. Intervention: DNA was subjected to whole genome sequencing. Shared regions of homozygosity were identified using Truploidy and prioritized using the Variant Annotation, Analysis, and Search Tool with control data from 387 healthy subjects. Imaging and quantification of protein localization and mitochondrial function were examined in cell lines. Main Outcome: Homozygous recessive gene variants shared by the four sisters. Results: The sisters shared a homozygous stop gain mutation in exon 6 of PSMC3IP (c.489 C>G, p.Tyr163Ter) and a missense variant in exon 1 of CLPP (c.100C>T, p.Pro34Ser). The affected brother also carried the homozygous PSMC3IP mutation. Functional studies demonstrated mitochondrial fragmentation in cells infected with the CLPP mutation. However, no abnormality was found in mitochondrial targeting or respiration. Conclusions: The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. The findings also suggest that the N-terminal missense mutation in CLPP does not cause substantial mitochondrial dysfunction or contribute to ovarian insufficiency in an oligogenic manner.