Combined pituitary hormone deficiency: current and future status.

Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription factors have been reported with variable degrees of phenotype-genotype correlations. However, to date, despite the identification of an increased number of genetic causes of isolated or multiple pituitary deficiencies, the etiology of most (80-90 %) congenital cases of hypopituitarism remains unsolved. Identifying new etiologies is of importance as a post-natal diagnosis to better diagnose and treat the patients (delayed pituitary deficiencies, differential diagnosis of a pituitary mass on MRI, etc.), and as a prenatal diagnosis to decrease the risk of early death (undiagnosed corticotroph deficiency for instance). The aim of this review is to summarize the main etiologies and phenotypes of combined pituitary hormone deficiencies, associated or not with extra-pituitary anomalies, and to suggest how the identification of such etiologies could be improved in the near future.

Impact of continuous glucose monitoring on everyday life of young children with type 1 diabetes and their parents: An evaluation of 114 families.

INTRODUCTION: The prevalence of type 1 diabetes is increasing worldwide. The advent of new monitoring devices has enabled tighter glycemic control. AIM: To study the impact of glucose monitoring devices on the everyday life of young children with type 1 diabetes (T1D) and their parents. METHODS: A questionnaire was addressed to parents of children with T1D under the age of 6 years with an insulin pump treated in one of the hospitals of the ADIM network in France between January and July 2020. RESULTS: Among the 114 families included in the study, 53% of parents (26/49) woke up every night to monitor blood glucose levels when their child had flash glucose monitoring (FGM), compared with 23% (13/56) of those whose child had continuous glucose monitoring (CGM). Overall, 81% of parents (86/108) found that glucose monitoring improved their own sleep and parents whose child had CGM were significantly more likely to report improved sleep (86% vs 73%, p = 0.006). Forty-nine percent of parents (55/113) declared that they (in 87% of cases, the mother only) had reduced their working hours or stopped working following their child's T1D diagnosis. Maternal unemployment was significantly associated with the presence of siblings (p = 0.001) but not with glycemic control (p = 0,87). Ninety-eight percent of parents (105/107) think that glucose monitoring improves school integration. CONCLUSION: In these families of children with T1D, new diabetes technologies reduced the burden of care but sleep disruption remained common. Social needs evaluation, particularly of mothers, is important at initial diagnosis of T1D in children.

Two cases of fractures in neonates associated with maternofetal vitamin D deficiency.

Vitamin D supplementation is essential for the entire population, especially during pregnancy and in the pediatric period. We report two case studies of full-term newborns who presented long-bone fractures associated with severe vitamin D deficiency transmitted to them by their mothers, even though maternal supplementation had been implemented according to the existing recommendations. These observations encourage the investigation of neonatal vitamin D deficiency in the presence of long-bone fractures in the absence of traumatic birth and the necessity of reenforcing the means of prevention and the selection of risk groups in order to adjust vitamin D supplementation during pregnancy individually.

[Investigation of tall stature in children: Diagnostic work-up, review of the main causes]. / Exploration d'une avance staturale chez l'enfant : conduite à tenir pratique, principales étiologies à évoquer.

Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes. The past medical history including parents' height, prenatal and birth data, physical examination along with anthropometry (height, weight, head circumference, body mass index), and growth chart evaluation with the detailed growth pattern are generally sufficient to make the diagnosis such as familial tall stature, obesity, or early puberty. Bone age estimation may be helpful for some specific etiologies and is also necessary to help predict final adult height. After exclusion of common causes, further investigation is required. Sudden growth acceleration often reveals endocrine pathology such as early puberty, hyperthyroidism, or acrogigantism. Tall stature accompanied by dysmorphic features, congenital malformations, developmental delay, or a family medical history may be related to genetic disorders such as Marfan, Sotos, or Wiedemann-Beckwith syndromes. We relate here the most frequent etiologies of overgrowth syndromes.

Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach.

INTRODUCTION: Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Other markers have been suggested. Direct quantification of circulating AVP is not sufficient for diagnosis: vasopressin is unstable, analysis is complex. AVP comes from prohormone preprovasopressin with concomitant release of copeptin (C-terminal moiety) in the equimolar ratio. Copeptin is stable in vitro, with easy and rapid measurement (<4h). Past studies have shown greater sensitivity and specificity of copeptin versus AVP to discriminate etiologies of polyuria in adults, but its value has not been demonstrated in infants yet. OBSERVATION: A 7-month-old infant presented polyuria-polydipsia syndrome with poor weight gain. Laboratory tests pointed out hypernatremia (170mmol/L) and blood hyperosmolarity (330mOsm/L) with inappropriate urinary hypoosmolarity (168mOsm/L). Plasmatic copeptin measurement was found at a very high level, 303pmol/L (1-14pmol/L). DdAVP administration did not improve the polyuria, confirming the final diagnosis of NDI. Hyperhydration with a hypoosmolar diet normalized the hydration status and circulating levels of copeptin within 1 week. CONCLUSION: Copeptin, a stable peptide reflecting AVP secretion, could be a safer and faster biomarker for etiological diagnosis of polyuria-polydipsia syndrome in children. Before regularization of hydration status, a single baseline measurement may be enough to discriminate NDI from other etiologies without the water deprivation test.

[Amanita proxima poisoning in a child]. / Un cas pédiatrique d'intoxication par Amanita proxima.

Mushroom intoxication due to Amanita proxima poisoning is characterized by moderate gastrointestinal symptoms, followed by severe acute renal failure and sometimes by hepatic cytolysis. This syndrome was described in the 1990s in the southeast of France; we report here the first pediatric case, requiring dialysis but achieving complete recovery. The mother of this 11-year-old boy, who had eaten the same mushrooms but in smaller quantities, had only biological renal and hepatic involvement.