This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming ...to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels. Appropriate diagnosis of adolescent PCOS should include adequate and careful evaluation of symptoms, such as hirsutism, severe acne, and menstrual irregularities 2 years beyond menarche, and elevated androgen levels. Polycystic ovarian morphology on ultrasound without hyperandrogenism or menstrual irregularities should not be used to diagnose adolescent PCOS. Hyperinsulinemia, insulin resistance, and obesity may be present in adolescents with PCOS, but are not considered to be diagnostic criteria. Treatment of adolescent PCOS should include lifestyle intervention, local therapies, and medications. Insulin sensitizers like metformin and oral contraceptive pills provide short-term benefits on PCOS symptoms. There are limited data on anti-androgens and combined therapies showing additive/synergistic actions for adolescents. Reproductive aspects and transition should be taken into account when managing adolescents.
Henoch-Schonlein purpura (HSP) is a common IgA-mediated small vessel vasculitis of childhood that affects several systems. It is characterised by a tetrad of dermatological, abdominal, joint and ...renal manifestations. HSP can occur secondary to upper respiratory tract infections, medications, vaccinations and malignancies. COVID-19 is caused by SARS-CoV-2, a single-stranded RNA virus from the Beta-Coronaviridae family, and often presents as a respiratory infection with symptoms ranging from a mild common cold-like illness to severe pneumonia. It has also been reported to exhibit extrapulmonary manifestations, including but not limited to cardiac, thrombotic, hepatocellular and dermatological complications. We report a case of a 4-year-old boy who presented with clinical features of HSP, with detailed history that revealed a recent recovery from a COVID-19 upper respiratory tract infection, indicating a possible correlation between the two.
Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic ...complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.
CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity. Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records.
Data from 43 patients with CGL (37 females, 86%) were collected from centers located in eight countries. The mean (median, range) age at diagnosis was 5.1 (1.0, at birth-37) years. Genetic analysis of the overall cohort showed that CGL1 (n = 14, 33%) and CGL2 (n = 18, 42%) were the predominant CGL subtypes followed by CGL4 (n = 10, 23%); a genetic diagnosis was unavailable for one patient (2%). There was a high prevalence of parental consanguinity (93%) and family history (67%) of lipodystrophy, with 64% (n = 25/39) and 51% (n = 20/39) of patients presenting with acromegaloid features and acanthosis nigricans, respectively. Eighty-one percent (n = 35/43) of patients had at least one organ abnormality; the most frequently affected organs were the liver (70%, n = 30/43), the cardiovascular system (37%, n = 16/43) and the spleen (33%, n = 14/43). Thirteen out of 28 (46%) patients had HbA1c > 5.7% and 20/33 (61%) had triglyceride levels > 2.26 mmol/L (200 mg/dl). Generally, patients diagnosed in adolescence or later had a greater severity of metabolic disease versus those diagnosed during childhood; however, metabolic and organ system abnormalities were observed in a subset of patients diagnosed before or at 1 year of age.
This analysis suggests that in addition to the early onset of fat loss, family history and high consanguinity enable the identification of young patients with CGL in the MENA region. In patients with CGL who have not received lipodystrophy-specific treatment, severe metabolic disease and organ abnormalities can develop by late childhood and worsen with age.
Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, ...seizures and behavior problems. Literature of this syndrome is scanty and confusing, and represents a challenge for pediatricians, in terms of finding the correct diagnoses.
In a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microdeletion and micro duplication in 22q13 was diagnosed by banding cytogenetics, and further characterized in detail by molecular cytogenetic and chromosomal microarray.
Here a rare PHMDS case caused by a r(22) is presented. Less than 10 comparable cases are reported in the literature. The present case highlights the importance of conducting genetic counseling and appropriate genetic tests for newborns with mild dysmorphic features.
Background:
Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of ...lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF.
Methods:
A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses.
Results:
A total of 998 reports from 499 children with T1D aged 8 to 18 years (study = 276, control = 223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children’s care during lockdown (P = .019). Patients had better compliance with treatment (P = .002), a reversed sleep pattern (P = .033), increased food intake (P ⩽ .001), and less exercise (P < .001). Children and parents perceived better QoL during lockdown (P ⩽.001) with no differences between their reports in “Diabetes Symptoms”, “Treatment Adherence,” and “Communication” domains. Self and proxy reports were different in all domains during non-lockdown (P = <.001-.009). In gap analysis, although not statistically significant, the gap was approximated between children’s and parents’ perceptions in all domains during lockdown.
Conclusion:
COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics.
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.
Maturity-onset diabetes of the young (MODY) is a type of diabetes that does not entirely fit the usually encountered type 1 or type 2 diabetes. It is a monogenic, familial and non-autoimmune diabetes ...among children and young adults resulting from autosomal dominant gene mutations.MODY diagnosis is confirmed by molecular genetic testing, which is costly. Therefore, it is rarely done.Nearly 1%-6% of diabetes has a monogenic cause but this is frequently misclassified as type 1 diabetes mellitus due to the lack of genetic testing. Therefore, a correct diagnosis of MODY is crucial for determining the plan of management. Furthermore, having a patient with MODY in a family indicates screening other family members. In this case report, we highlight that paediatric diabetes cases are not always type 1 or type 2 diabetes mellitus since two siblings incidentally presented with hyperglycaemia and a confirmed diagnosis of MODY type 10 was ultimately made. Moreover, their mother who was previously labelled as a case of type 1 diabetes mellitus was diagnosed later as MODY after genetic testing.
Costello syndrome and hyperinsulinemic hypoglycemia Alexander, Saji; Ramadan, Dina; Alkhayyat, Haya ...
American journal of medical genetics. Part A,
15 December 2005, Letnik:
139A, Številka:
3
Journal Article
Henoch-Schonlein purpura (HSP) is a common IgA-mediated small vessel vasculitis of childhood that affects several systems. It is characterised by a tetrad of dermatological, abdominal, joint and ...renal manifestations. HSP can occur secondary to upper respiratory tract infections, medications, vaccinations and malignancies. COVID-19 is caused by SARS-CoV-2, a single-stranded RNA virus from the Beta-Coronaviridae family, and often presents as a respiratory infection with symptoms ranging from a mild common cold-like illness to severe pneumonia. It has also been reported to exhibit extrapulmonary manifestations, including but not limited to cardiac, thrombotic, hepatocellular and dermatological complications. We report a case of a 4-year-old boy who presented with clinical features of HSP, with detailed history that revealed a recent recovery from a COVID-19 upper respiratory tract infection, indicating a possible correlation between the two.
•Ambulatory glucose profiles (AGP) facilitate interpretation of CGM data.•In the MENA region, several circumstances complicate glucose monitoring.•E.g., high rates of type 1 diabetes mellitus, ...haemoglobinopathies, Ramadan fasting.•We present recommendations for effective use of AGP in MENA and beyond.•The aims are higher time in range, lower glucose variability and fewer hypos.
Diabetes mellitus imposes a significant burden around the world generally and in the Middle East and North Africa specifically. Glucose monitoring is a cornerstone of diabetes management.
Glycated haemoglobin has always been the main metric for assessing glycaemic control, but its use is linked with multiple pitfalls. As an alternative, continuous glucose monitoring is becoming a standard of care in many countries. Intermittent scanning glucose monitoring (isCGM) has acquired a worldwide popularity and has been proven to improve glycaemic control, hypoglycaemia detection and prevention, and quality of life.
The most recent International Society of Paediatric and Adolescent Diabetes practice.
guidelines recommended its use in young people with diabetes observing Ramadan to ensure safe fasting. At a meeting in Abu Dhabi in November 2019, the Arab Society for Paediatric.
Endocrinology and Diabetes brought together a number of regional diabetes experts, patient.
representatives and international expert advisors to review the evidence for isCGM and propose.
guidelines for its use in the Middle East and North Africa region.
In this paper, the authors strongly recommend the use of isCGM for patients in MENA and present general recommendations and compressive specific guidance for physicians and patients, which they believe will also have wider resonance.
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