Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.

Purpose: Testotoxicosis is an autosomal dominant form of limited gonadotropin-independent precocious puberty in boys. It is caused by a heterozygous constitutively activating mutation of the LHCGR gene encoding the luteinizing/hormone receptor (LHR). Some twenty mutations of the LHCGR gene have been reported. Most of them are constitutive mutations isolated from blood leukocyte DNA, although others are somatic, found only in testicular tumoural tissue. In all the previously reported cases of these somatic mutations, the tumour, whether a nodular Leydig cell adenoma or hyperplasia, was easily visible on testicular ultrasonography. The aim of this study was to describe an unusual presentation of a patient with the clinical and hormonal characteristics of testotoxicosis but no well-circumscribed lesion at testicular ultrasonography.Materials and Methods: Molecular analysis of the LHCGR gene was performed by direct sequencing of DNA extracted from peripheral leucocytes and testicular biopsy.Results: Molecular analysis didn't find any LHR mutation in blood, whereas it revealed for the first time a somatic D578H mutation in testicular tissue despite no evidence of a nodular aspect at testis ultrasonography.Conclusions: This observation underlines the need to look for a somatic LHCGR gene mutation from the testicular biopsies of all boys with testotoxicosis with no constitutive LHCGR gene mutation identified from blood DNA, even in the absence of circumscribed testicular lesion at ultrasonography. In addition, based on the known link between LHR mutations and testicular tumourigenesis, yearly ultrasound monitoring of the testes should be considered for these patients.

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.

Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recently, 2 patients were reported with the same homozygous variant in the WDR4 gene, coding for an enzyme responsible for the m7 G46 post transcriptional modification of tRNA. We report here 2 sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first 2 described patients: they both have a severe microcephaly but only one of the 2 sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a growth hormone deficiency and a partial hypogonadotropic hypogonadotropism. One of the 2 variants is a frameshift mutation, and the other one is a missense occurring in the same nucleotide affected by the first reported pathogenic variant, which could therefore be a mutational hot spot. The description of these 2 sisters allow us to confirm that biallelic variants in the WDR4 gene can lead to a specific phenotype, characterized by severe growth retardation and microcephaly.

Multidisciplinary care management has a positive effect on paediatric obesity and social and individual factors are associated with better outcomes.

AIM: The RePPOP Aquitaine network, which was established in south-west France to prevent and treat paediatric obesity, has developed a multidisciplinary approach based on multicomponent lifestyle interventions and family-based actions. This study assessed the impact of its care management programme and investigated the factors associated with better outcomes. METHODS: The impact of the RePPOP care management programme was assessed by changes in the body mass index (BMI) Z score, between baseline and the end-of-care management. We focused on 982 overweight or obese children (59.9% girls) with a mean age of 10.64 years and a range of 2.4-17.9 years. A multivariate analysis examined the independent factors associated with better outcomes. RESULTS: At the end-of-care management programme, 75.5% of children had decreased their BMI Z score. Initial characteristics significantly associated with better outcomes were as follows: the age at baseline between five years and 15 years of age, playing sport at a club, being followed up by RePPOP for longer than 10 months, no parental obesity and no academic difficulties. CONCLUSION: This study confirmed that multidisciplinary treatment had a significant positive effect on paediatric obesity and that social and individual factors affected the efficiency of the care management.

Evaluation of catch-up growth in severe pediatric Hashimoto's hypothyroidism.

BACKGROUND: We aimed to evaluate catch-up growth in children with severe Hashimoto's hypothyroidism (HH) after thyroid hormone replacement therapy (HRT). METHODS: A multicenter retrospective study was conducted including children referred for growth slowdown that led to the diagnosis of HH between 1998 and 2017. RESULTS: A total of 29 patients were included, with a median age of 9.7 years (13-172 months). Median height at diagnosis was -2.7 [-4.6; -0.1] standard deviation score (SDS), with a height loss of 2.5 [0.7; 5.4] SDS compared to height before growth deflection (p<0.0001). At diagnosis, the median TSH level was 819.5 mIU/L [100; 1844], the median FT4 level was 0 pmol/L [undetectable; 5.4], and the median anti-thyroperoxidase antibody level was 1601 UI/L [47; 25,500]. In the 20 patients treated only with HRT, there were significant differences between height at diagnosis and height at 1 year (n = 19, p<0.0001), 2 years (n = 13, p = 0.0005), 3 years (n = 9, p = 0.0039), 4 years (n = 10, p = 0.0078), and 5 years (n = 10, p = 0.0018) of treatment but not in the case of final height (n = 6, p = 0.0625). Median final height was -1.4 [-2.7; 1,5] SDS (n = 6), with a significant difference between height loss at diagnosis and total catch-up growth (p = 0.003). The other nine patients were also given growth hormone (GH). They were smaller at diagnosis (p = 0.01); however, there was no difference in final height between those two groups (p = 0.68). CONCLUSION: Severe HH can lead to a major height deficit, and catch-up growth seems to be insufficient after treatment with HRT alone. In the most severe cases, administration of GH may enhance this catch-up.

Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France.

Neonatal screening for congenital hypothyroidism (CH) is based on the measurement of thyroid-stimulating hormone (TSH) in whole dried blood samples on filter paper in all newborns. The objective of screening for CH is to prevent mental retardation, which is irreversible in the event of a late diagnosis, by setting up prompt treatment (before day 15) with levothyroxine. The threshold value of TSH on filter paper on day 3 is 17 mIU/L in France in the GSP method (GSP, Genetic Screening Processor, Perkin Elmer): It is one of the highest thresholds used in the world. In many countries, the TSH threshold is between 6 and 12 mIU/L. Studies have found that a threshold of > 17 mIU/L may miss as much as 30% of cases of CH, with 30-80% of these being permanent CH. Recent studies suggest that mild CH (currently missed by the French TSH threshold) is associated with cognitive consequences if left untreated. An inverse relationship between TSH at screening (below the current threshold) and cognitive development at preschool or school age has been shown. These studies advocate for the evaluation of a lowering of the threshold of TSH on filter paper in France: (a) to determine the number of CH diagnoses with the new threshold and whether these "new cases" would be transitory or permanent; and (b) to analyze the cost-effectiveness of the strategy.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins), is to provide health professionals with a guide to optimal management and care of patients with FPLD2, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Dunnigan syndrome is characterized by a partial atrophy of the subcutaneous adipose tissue and by an insulin resistance syndrome, associated with a risk of metabolic, cardiovascular and muscular complications. Its prevalence, assessed at 1/100.000 in Europe, is probably considerably underestimated. Thorough clinical examination is key to diagnosis. Biochemical testing frequently shows hyperinsulinemia, abnormal glucose tolerance and hypertriglyceridemia. Elevated hepatic transaminases (hepatic steatosis) and creatine phosphokinase, and hyperandrogenism in women, are common. Molecular analysis of the LMNA gene confirms diagnosis and allows for family investigations. Regular screening and multidisciplinary monitoring of the associated complications are necessary. Diabetes frequently develops from puberty onwards. Hypertriglyceridemia may lead to acute pancreatitis. Early atherosclerosis and cardiomyopathy should be monitored. In women, polycystic ovary syndrome is common. Overall, the management of patients with Dunnigan syndrome requires the collaboration of several health care providers. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are described to provide such a support.

Do children and adolescents with type 1 diabetes suffer from a lack of resources in France? Results from a benchmark study in the New Aquitaine region.

BACKGROUND: A benchmark study was conducted in the southwest of France, in the New Aquitaine region, to investigate metabolic outcomes and availability of resources in pediatric diabetes units. We assessed whether the level of care was in accordance with the International Society for Pediatric and Adolescent Diabetes recommendations. METHODS: Demographic and clinical data were collected, as were all HbA1c tests for the 2017 calendar year. Pediatricians specialized in diabetes care were invited to complete an online survey concerning means allocated to the management of type 1 diabetes in their centers. RESULTS: Sixteen centers provided data for 1277 patients and 3873 clinical visits. A total of 1115 children suffering from diabetes for more than 1 year were studied. Median HbA1c was 8% (7.4-8.6) for the whole region. Only 29.2% of children had good metabolic control in accordance with the <7.5% target. We identified slight but significant variation in glycemic control among centers (P=0.029). The use of an insulin pump varied greatly among centers but did not explain HbA1c differences. We did not identify a correlation between medical or paramedical time dedicated to the follow-up of diabetic patients and the mean HbA1c of each center. For 100 diabetic patients, follow-up was provided by 0.42 physicians (0.23-1.50), 0.15 nurses (0-0.56), 0.12 dietitians (0-0.48), and 0.07 psychologists (0-0.30). CONCLUSION: This study demonstrates a lack of human resources allocated to the management of type 1 diabetes in the region that is far below international recommendations. The proportion of children achieving the international glycemic target is low. There is a clear need to improve glycemic control in children, which will only be possible with improved professional practices, encouraged by benchmark studies, and by increasing the size of our multidisciplinary teams.

Optimization of insulin regimen and glucose outcomes with short-term real-time continuous glucose monitoring (RT-CGM) in type 1 diabetic children with sub-optimal glucose control on multiple daily injections: The pediatric DIACCOR study.

BACKGROUND: The impact of 7-day real-time continuous glucose monitoring (RT-CGM) on type 1 diabetes (T1D) management remains unknown in youths with suboptimal control by multiple daily injections (MDI). The DIACCOR Study aimed to describe treatment decisions and glucose outcomes after a short-term RT-CGM sequence in real-life conditions. METHODS: This French multicenter longitudinal observational study included T1D youths with HbA1c>7.5% or a history of severe hypoglycemia (SH) or recurrent documented hypoglycemia. A sensor was inserted at the study-inclusion visit, and one of three predefined treatment changes was proposed by the investigator within 7-15 days: INT=MDI intensification, CSII=switch to continuous insulin infusion, or ER=educational reinforcement with no change in insulin regimen and a 4-month follow-up visit (M4) was scheduled. RESULTS: A total of 229 children (12.2±3.5 years old) were recruited by 74 pediatricians; 12.8% had a history of SH, 22.2% had recurrent hypoglycemia. Baseline HbA1c was 8.7±1.5% (>7.5% in 82.8%). Overall, 139 (79.4%), 19 (10.9%), and 17 patients (9.7%) were, respectively, included in the INT, CSII, and ER subgroups. At M4, the global incidence of SH and recurrent hypoglycemia dropped (3.4% vs. 12.8% and 6.0% vs. 22.2%, respectively) as well as the incidence of ketoacidosis (2.1% vs. 8.1%) or ketosis (6.9% vs. 11.4%). The HbA1c decrease was significant overall and in the INT subgroup (adjusted difference -0.29%, P=0.009). The satisfaction rate was≥93.0% among children. CONCLUSION: In a real-life setting, a 1-week RT-CGM can promote treatment optimization in youths with uncontrolled T1D resulting mostly in less acute events. CGM acceptance may improve with new-generation sensors.

Relationships between emotional disorders, personality dimensions, and binge eating disorder in French obese adolescents.

PURPOSE: Binge eating disorder (BED) is associated with higher psychopathology, including emotional and personality disorders, in the adult population, whether or not they are obese; although few data are available on adolescents, particularly among obese adolescents. OBJECTIVE: To explore the association of both emotional disorders and personality dimensions with BED in obese adolescents. METHODS: The sample consisted of 115 French adolescents enrolled at a clinical unit for the multidisciplinary care of their overweight or obesity. BED was defined using the Binge Eating Scale (BES). Emotional disorders and personality dimensions were assessed using the following tools: Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Junior Temperament and Character Inventory (JTCI); impulsivity was determined by the Barratt Impulsiveness Scale (BIS) and the Toronto Alexithymia Scale (TAS). Associations between emotional disorders (BDI/BAI) and personality dimensions (TAS/BIS/JTCI), considered first separately and then jointly with BED were determined with multivariate analysis. RESULTS: More severe depression (ß=0.27, CI [0.06; 0.48], P=0.011), a higher level of excess weight (ß=1.91, CI [0.22; 3.59], P=0.027), older age (ß=1.28, CI [0.43; 2.14], P=0.003), and greater cooperativeness (ß=0.36, CI [0.07; 0.66], P=0.017) were independently significantly associated with the presence of BED. CONCLUSIONS: This cross-sectional study underlines the co-occurrence of emotional and personality disorders with BED. This points out the importance of a multidisciplinary approach and the relevance of a joint diagnosis of binge eating, emotional disorders, and personality dimensions in obese adolescents, for better prevention and treatment of pediatric obesity.

The growing incidence of type 1 diabetes in children: the 17-year French experience in Aquitaine.

BACKGROUND: While the incidence of type 1 diabetes in children has increased in various parts of the world, in France, no actual figures have been available since 1997. OBJECTIVE: The aim of this study was to determine whether or not the pattern of increase in the incidence of type 1 diabetes in children aged less than 15 years varies with age at onset in Aquitaine (France) over a 17-year period. PATIENTS AND METHODS: From 1988 to 1997, all newly diagnosed cases of type 1 diabetes were confirmed by registration into the French Registry of Incidence of Diabetes. Subsequently, all cases registered from 1998 to 2004 were collected within paediatric centres in Aquitaine as part of their hospital-based prospective records. RESULTS: In the overall population, the age- and gender-adjusted incidence rate increased from 8.86 per 100,000 per year (95% CI: 6.27-11.45) in 1988 to 13.47 per 100,000 per year (95% CI: 10.29-16.65) in 2004, indicating an annual increase in incidence of 3.34% (95% CI: 3.33-3.34). Median age at diabetes onset for cases in the first registration period (1988-1996) was significantly higher than that in the second registration period (1997-2004): 10.04 years (range: 6.64-12.53) versus 8.83 years (range: 5.48-11.73), respectively (P=0.01). The annual increase in incidence rate was highest in the youngest children and varied significantly with age (0-4 years: 7.59%; 5-9 years: 4.06%; 10-14 years: 1.28%). CONCLUSION: These results indicate a doubling of the incidence of type 1 diabetes in children every 30 years in Aquitaine, with an even steeper increase among younger children, thus underscoring the need for appropriate adaptation of the system of healthcare provision.

[Involvement of hypothalamopituitary adrenal axis in abdominal obesity]. / Place de l'axe corticotrope dans le développement de l'obésité abdominale.

Obesity is increasing worldwide. Abdominal obesity, which is due to the development of visceral adipose tissue, leads to metabolic disorders. Because abdominal obesity is associated with Cushing syndrome, many studies have been performed to find out how the hypothalamopituitary adrenal axis is involved in this disorder. Here, we propose to review these data before giving our experience on changes in hypothalamopituitary adrenal axis activity regarding fat mass distribution in prepubertal children.

[Transient neonatal thyrotoxicosis: clinical presentation and treatment in 7 cases]. / Complications cliniques et difficultés de prise en charge de l'hyperthyroïdie néonatale transmise.

UNLABELLED: Neonatal thyrotoxicosis is a rare disease. The goal of this study was to analyse main neonatal symptoms, clinical complications and patient's care. MATERIAL AND METHODS: This retrospective study concerned the newborns admitted with neonatal thyrotoxicosis between 1992 and 2004 in the neonatal department of Bordeaux, Toulouse and Pau hospital. RESULTS: Seven of these patients were included in the study. All of the newborns had permanent tachycardia and 3 of them had respiratory failure. Two patients had potentially lethal clinical complications. The first had goitre with tracheal compression. The second developed global heart failure on his 13th day of life. The onset of antithyroid drug treatment was between the 3rd and the 18th day of life. Mean duration of treatment was 50 days. Occurring complications were neutropenia in 3 patients and hypothyroidism in 1 patient. The children were tracked during their first year, and all had normal growth and normal neurological development. CONCLUSION: The main prognostic factor is the early onset of antithyroid treatment. In our study, 2 patients had potentially lethal clinical complications. Adequate care depends on early spotting of high-risk newborn.

[Ketoacidosis at time of diagnosis of type 1 diabetes in children and adolescents: effect of a national prevention campaign]. / Effet à un an de la campagne nationale de prévention de l'acidocétose au moment du diagnostic de diabète de type 1 chez l'enfant et l'adolescent.

The aim of the study was to evaluate, after the first year of a national information campaign, the effect on the frequency and severity of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) in children and adolescents in France. The following data were collected during a 2-year period in people younger than 15 years of age at diagnosis of T1D, in 146 pediatric centers: age, sex, duration of symptoms, patient's previous care, clinical and biological signs, and family history of T1D. DKA was defined as pH<7.30 or bicarbonate<15mmol/L, severe DKA as pH<7.10 or bicarbonate <5mmol/L. During the 2nd year, an information campaign targeting health professionals and families was launched with the objective of reducing the time to diagnosis. Data were compared between the year before the campaign (year 0) and the first year of the campaign (year 1). The number of new cases of T1D was 1299 for year 0 and 1247 for year 1. Between year 0 and year 1, the rate of DKA decreased from 43.9% to 40.5% (P=0.08), exclusively due to the decrease of severe DKA from 14.8 to 11.4% (P=0.01). In the 0- to 5-year-old and 5- to 10-year-old age groups, the relative decrease in the rate of DKA was 13% and 15%, and 23% and 41% for severe DKA, respectively. In patients referred to the hospital by a pediatrician or who came at the family's initiative, the decrease was 34% and 7%, and 39% and 32% for severe DKA, respectively. No change was observed in the 10- to 15-year-old group or in those children who were referred by a general practitioner. In multivariate analyses, a higher DKA rate was associated with the young age of the child (<5 years), being hospitalized at the parents' initiative rather than being referred by a doctor, and the absence of a family history of T1D. A higher rate of severe DKA was associated with these last two factors but not with the child's age. The frequency of DKA at diagnosis of type 1 diabetes remains high in children and adolescents, but the first year of an information campaign decreased it. The results have also helped better define the strategy and targets of the continuing prevention campaign, to more efficiently reduce the morbidity and mortality of T1D at diagnosis in children and adolescents in France.

Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome.

We report the case of a 20-year-old female patient with Beckwith-Wiedemann syndrome presenting with high blood pressure and bilateral adrenal pheochromocytoma successfully removed with laparoscopy in the same time. To our knowledge, the present case is the first observation of a bilateral pheochromocytoma occurring in the Beckwith-Wiedemann syndrome. It provides further support for a genetic anomaly in this condition. Our case also indicates the interest of laparoscopy for the surgical treatment of adrenal pheochromocytoma, even in bilateral tumors.

[Two cases of mineralocorticoids deficiency as first endocrine manifestation of APECED syndrome]. / A propos de deux cas de déficit en minéralo-corticoïdes dû à une première manifestation endocrinienne du syndrome APECED.

The Authors report two cases of APECED syndrome (Auto-immune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) revealed by hyponatremia due to isolated mineralocorticoids deficiency. Such cases illustrate the variable endocrine features revealing the syndrome. The mechanisms underlying the auto-immune destruction of the adrenals are discussed.

[Kawasaki's disease with eruptive pustular and guttate psoriasis]. / Psoriasis éruptif pustuleux et en gouttes survenant au cours de la maladie de Kawasaki.

BACKGROUND: Kawasaki's disease may have numerous atypical forms and these must be recognized in order to avoid delay of treatment. We report a case of psoriasis, first pustular and then guttate, occurring during Kawasaki's disease, and discuss a common pathophysiological mechanism. CASE-REPORT: A 3 year-old boy was seen for a febrile exanthema suggestive of Kawasaki disease (bilateral conjunctivitis, red and fissured lips, palmoplantar erythema, scarlet fever-like rash and perineal desquamation) associated with pustular lesions. A biopsy specimen of a pustular area showed histological features consistent with the diagnosis of pustular psoriasis. No coronary abnormality was found. The child was treated with intravenous immunoglobulins (2 g/kg) and oral aspirin (60 mg/kg/d). All the symptoms disappeared and immediate follow-up was marked by the appearance of guttate psoriasis. DISCUSSION: Onset of psoriatic lesions during Kawasaki disease has been reported in 12 cases, either in acute phase or in immediate follow-up. Coronary complications have been found in 4 of 5 cases with acute psoriasis, suggesting a severe prognosis for this association. The hypothesis of a common pathophysiological mechanism is discussed with the intervention of a bacterial toxin acting as a superantigen and resulting in an strong activation of T-cells that leads to keratinocyte activation. The psoriatic lesions could hence be considered as a form of Köbner's phenomenon.

[Clinical and biochemical characterization of childhood urolithiasis]. / Caractéristiques cliniques et biochimiques des lithiases urinaires de l'enfant.

OBJECTIVES: Urolithiasis is rare in children, but the incidence has increased over the past few decades. This study aims at describing the clinical and biochemical characteristics, etiology, and treatment of urolithiasis in children. METHODS: This was a retrospective study of all children under 16 years of age seen at the Bordeaux University Children's Hospital with a diagnosis of urolithiasis. The diagnosis was confirmed either radiologically or clinically by the expulsion of the stone. RESULTS: A total of 186 children with a diagnosis of urolithiasis between 1994 and 2012 were included. The median age at diagnosis was 7.4 years. The male-to-female ratio was 1.9. The estimated annual incidence was around 5.5/100,000 children under 15 years of age in the past 5 years. The main presenting feature was nonspecific abdominal pain (71%). Metabolic calculi accounted for 48% of the patients with idiopathic hypercalciuria as the main cause. Genetic diseases accounted for 15% of cases. The proportion of infectious calculi was estimated at 33% and decreased in the past two decades. Stone fragments were sent for analysis in 86 children, and calcium oxalate was the major component (37%), followed by calcium phosphate (33%), purine (9%), and struvite (8%). At least 26% of patients experienced recurrence of stone passage. CONCLUSION: This retrospective study highlighted changes in characteristics of pediatric urolithiasis over time. Childhood-onset urolithiasis requires complete etiological work-up so that a metabolic cause with a high risk of recurrence does not go unrecognized.

Ketoacidosis at diagnosis of type 1 diabetes in French children and adolescents.

OBJECTIVES: This study aimed to evaluate the frequency of diabetic ketoacidosis (DKA) and its associated factors at the diagnosis of type 1 diabetes (T1D) in French children and adolescents prior to launching a public-health campaign of information to prevent DKA. PATIENTS AND METHODS: Over a 1-year period, 1299 youngsters (aged < 15 years) were diagnosed with T1D at 146 paediatric centres in all regions of France. Age, gender, duration of symptoms, patient's pathway to diagnosis, clinical and biological signs, and family history of T1D were collected for each newly diagnosed patient. DKA was defined as pH < 7.30 or bicarbonate < 15 mmol/L, and severe DKA as pH < 7.10 or bicarbonate < 5 mmol/L. RESULTS: At the time of diagnosis, 26% of the children were aged 0-5 years, 34% were 5-10 years and 40% were 10-15 years. The overall prevalence of DKA was 43.9% (0-5 years: 54.2%; 5-10 years: 43.4%; and 10-15 years: 37.1%) and 14.8% for severe DKA (0-5 years: 16.6%; 5-10 years: 14.4%; and 10-15 years: 13.9%; < 2 years: 25.3%). Severe DKA was more frequent when the child was hospitalized at the family's behest (26.6%) than when referred by a general practitioner (7.6%) or paediatrician (5.1%; 30.6%, 53.7% and 9.2%, respectively, by patients' age group). The frequency of DKA decreased to 20.1% (severe DKA: 4.4%) in families with a history of T1D. Multivariate analysis showed that age, pathway to diagnosis, duration of polyuria/polydipsia (< 1 week) and family history of T1D were associated with the presence of DKA, while pathway to diagnosis and family history of T1D were associated with severe DKA. CONCLUSION: DKA at the time of T1D diagnosis in children and adolescents is frequent and often severe. Patients' age, pathway to hospitalization and family history of diabetes were the main factors associated with DKA. These data suggest that a public-health campaign to prevent DKA at diagnosis can help reduce the frequency of DKA and also provide baseline data for evaluating the efficacy of such a campaign.

[Epidemiology of diabetes mellitus in childhood]. / Épidémiologie des diabètes sucrés chez l'enfant.

Diabetes mellitus in childhood may correspond to different pathophysiological entities but type 1 diabetes is by far the most common form of diabetes in children. Its incidence has been increasing steadily over the past two decades. This trend is particularly important among younger children, leading to a youngest median age at the discovery of diabetes. Thus, approximately 25% of diagnoses of type 1 diabetes are in children under 5 years. In France, the type 2 diabetes in children is rare despite the rise in obesity. Investigations for the diagnosis are recommended in obese adolescents with a family history of type 2 diabetes. Monogenic diabetes are more common than type 2 diabetes in Europe. Their research depends on the analysis of family history and may lead to a specific therapeutic approach.