ABSTRACT
PURPOSE: The aim of the study was to estimate the current incidence and the distribution of etiologies of primary ovarian insufficiency (POI) in a nationwide study. The prevalence of POI in young adult women has recently increased, but the data cited for adolescents are more than three decades old. METHODS: Data regarding females aged <21 years diagnosed with POI during the years 2000-2016 were collected from all the pediatric endocrinology units in Israel. POI was defined by at least 4 months of amenorrhea in association with menopausal levels of follicle-stimulating hormone. Iatrogenic cases were excluded. RESULTS: For the 130 females aged <21 years included in the study, the distribution of POI etiologies was Turner syndrome/mosaicism in 56 (43%), idiopathic in 35 (27%), and other (developmental, genetic, metabolic, adrenal, and autoimmune) in 39 (30%) females. During the years 2009-2016, compared with 2000-2008, the incidence rate of new POI diagnoses per 100,000 person-years doubled (4.5 vs. 2.0; p value <.0001), and incidence rates of idiopathic and other etiologies increased by 2.6 (p value = .008) and 3.0 (p value = .002), respectively. In contrast, the incidence of Turner syndrome was constant (p value = .2). In the age group of 15-21 years, the current incidence of non-Turner POI in adolescents is one per 100,000 person-years. CONCLUSIONS: In this nationwide study, the incidence rate of POI in youth aged <21 years was one tenth of the rate that is commonly cited. A significant increase in the rate of POI in non-Turner females was observed over the last decade. Contributions of environmental and epigenetic factors should be studied.
Subject(s)
Primary Ovarian Insufficiency , Adolescent , Adult , Amenorrhea/epidemiology , Amenorrhea/etiology , Child , Female , Follicle Stimulating Hormone , Humans , Incidence , Israel/epidemiology , Primary Ovarian Insufficiency/epidemiology , Primary Ovarian Insufficiency/etiology , Young AdultSubject(s)
Budesonide , Fluticasone , Adrenal Insufficiency , Androstadienes , Anti-Inflammatory Agents , Deglutition , Eosinophilic Esophagitis , HumansABSTRACT
We sought to determine the prevalence of adrenal suppression (AS) in children with eosinophilic esophagitis treated with oral viscous budesonide (OVB). This was a retrospective review of a quality assurance initiative, whereby all children in our center treated with OVB for ≥3 months were referred over an 18-month time frame for endocrine assessment including 1 µg adrenocorticotropic hormone stimulation test. Fourteen of 19 children complied with the referral; of these 14 children, 6 (43%) had suboptimal stimulated cortisol (range 343-497 nmol/L, mean [±SD] 424.7 nmol/L [±52.4], normal ≥500 nmol/L). There was no significant association to treatment duration, dose, or concomitant use of inhaled/nasal corticosteroids. This study suggests that children treated with OVB may be at risk for AS.
Subject(s)
Adrenal Insufficiency/epidemiology , Budesonide/adverse effects , Eosinophilic Esophagitis/drug therapy , Glucocorticoids/adverse effects , Adolescent , Adrenal Insufficiency/chemically induced , Adrenal Insufficiency/diagnosis , Adrenocorticotropic Hormone/administration & dosage , Asthma/complications , Budesonide/administration & dosage , Budesonide/therapeutic use , Child , Child, Preschool , Female , Glucocorticoids/therapeutic use , Humans , Hydrocortisone/blood , Male , Retrospective StudiesABSTRACT
BACKGROUND: Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes. METHODS: Single nucleotide polymorphism microarray and Sanger sequencing were performed. Western blot, rubidium efflux, and patch clamp recordings interrogated the expression and activity of the mutant protein. RESULTS: A 16-month-old girl of consanguineous descent manifested hypoglycemia. She had dysregulation of insulin secretion, with postprandial hyperglycemia followed by hypoglycemia. Microarray revealed homozygosity for the regions encompassing KCNJ11 and ABCC8. Her father had developed diabetes at 28 years of age. Sequencing of ABCC8 identified a homozygous missense mutation, p.R1419H, in both individuals. Functional studies showed absence of working KATP channels. CONCLUSION: This is the first description of a homozygous p.R1419H mutation. Our findings highlight that homozygous loss-of-function mutations of ABCC8 do not necessarily translate into early-onset severe hyperinsulinemia.
Subject(s)
Hyperglycemia/genetics , Hypoglycemia/genetics , Sulfonylurea Receptors/genetics , Adult , Amino Acid Substitution , Arginine/genetics , Cells, Cultured , Consanguinity , Family , Female , Histidine/genetics , Homozygote , Humans , Hyperglycemia/complications , Hyperglycemia/pathology , Hypoglycemia/complications , Hypoglycemia/pathology , Infant , Male , Mutation, Missense , Pedigree , PhenotypeABSTRACT
OBJECTIVE: To evaluate the effect of intensive art therapy in youth with poorly controlled type 1 diabetes mellitus (T1DM). METHODS: A retrospective report of the characteristics and outcomes of all patients who were offered to receive individual art therapy sessions because of behavioral difficulties. RESULTS: The study population included 29 participants. The main behavioral difficulties were needle phobia and lack of compliance with nutritional recommendations or with insulin administration. The intervention group included 16 patients, with a mean age of 9.3±2.5 years, average intervention length of 0.77±0.41 years, and long-term data of 2.27±1.13 years. The control group included 13 patients, with a mean age of 9.3±3.4 years. Improvement was observed in 56% of the case group and in 23% of the control group. Art therapy was associated with a decrease in hemoglobin A1c in the intervention group compared with a similar control group (-0.79%, ±0.24%; r=0.17, p=0.025). CONCLUSIONS: The addition of intensive art therapy for poorly controlled youth with T1DM may improve their glycemic control.
