Abstract Objective Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed crisis (AC) incidence, frequency, and details of SD disease knowledge in adult paediatric patients their parents. Design Prospective, observational study. Methods Data on AC were collected via a patient diary. In case AC, medical records reviewed interviews conducted. Adherence to sick day rules the German Society...

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) requires lifelong glucocorticoid replacement manage cortisol and excessive androgen production. Conventional circadian treatment (CT) tries mimic natural rhythms, whereas reverse-circadian (RC) prioritizes the suppression of excess overnight through evening dosing. Limited data exist on immunological impact these regimens. A bi-centric study was conducted, including 41 pediatric adolescent CAH patients. Peripheral...

Abstract Context Several studies have highlighted the importance of 11-oxygenated 19-carbon (11oxC19) adrenal-derived steroids as potential biomarkers for monitoring patients with 21-hydroxylase deficiency (21OHD). Objective To analyze circadian rhythmicity 11oxC19 in saliva profiles and evaluate their relevance parameters 21OHD. Design, Setting, Participants Cross-sectional single-center study including 59 classic 21OHD (men = 30; women 29) 49 body mass index- age-matched controls 19; 30)....

Tuberculosis (TB) epidemiology is changing in Western and Central Europe due to the rise immigration refugees fleeing high-TB-burden areas of war devastation. The change local demography lack sensitive specific TB diagnostic monitoring tools, especially for cases childhood TB, leads either missed or over-treatment this group. Here we present a promising new approach, T cell activation marker (TAM)-TB assay, its performance case extra-pulmonary occurring 16 year old refugee from Afghanistan....

Abstract Objectives The most suitable biochemical markers for therapy adjustment in patients with congenital adrenal hyperplasia are controversial. 11-Oxygenated androgens a promising new approach. objective of this study was to investigate the diurnal rhythm 11-ketotestosterone children and adolescents saliva correlate it salivary 17-hydroxyprogesterone. Methods Fifty-one samples steroid day-profiles from 17 were additionally analysed 11-ketotestosterone, retrospectively. All treated our...

Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy glucocorticoid (GC) and mineralocorticoid hormones to avoid crisis other complications. Most commonly, children receive hydrocortisone thrice daily the highest dose in morning, mimicking regular physiology. However, reverse circadian treatment (RCT) had been suggested previously. In this study, we aimed determine efficacy RCT prepubertal CAH by...

Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) substitution due to impaired cortisol synthesis. To avoid over- or undertreatment, one has consider auxology as well biochemical parameters for derived steroids like androstenedione (A4) and 17-hydroxyprogesterone (17-OHP). There are no established reference values A4 17-OHP in CAH.We performed a retrospective study 53 prepubertal patients CAH. Datasets of were included if the plasma respective clinical...

Abstract Background Glucocorticoids are crucial components of the treatment leukemia and lymphoma. High doses can lead to suppression hypothalamic–pituitary–adrenal (HPA) axis be causative for an impaired stress response during infection. This study aims evaluate cortisol in pediatric oncologic patients febrile episodes. Methods Totally, 75 children adolescents (5 months—18 years) with fever chemotherapy were consecutively enrolled this study. In total, 47 received glucocorticoids as part...

What is already known on this topic?Patients with congenital adrenal hyperplasia (CAH) receive lifelong therapy steroids.It that hypoglycaemia can occur in infancy and early childhood, even at night.This a life-threatening complication.In adolescence, visceral obesity, hypertension, hyperinsulinism insulin resistance come into focus.Insulin risk factor for cardiovascular diseases.To date, systematic studies of glucose profiles using continuous monitoring (CGM) technology patients CAH are...

Thyroid-stimulating hormone is generally regarded as a standard parameter for the evaluation of thyroid function. However, relying on this alone can be misleading. Therefore, thyroxine/free-thyroxine levels are used in patients with levothyroxine substitution adjustment therapy. Even normal values free thyroxine, decreased free-triiodothyronine/free-thyroxine ratio have already been described adults. In study, 25 children congenital hypothyroidism was compared 470 healthy seen other reasons...

The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. origin these lesions unclear, but their appearance seems to be associated with various forms androgen excess, including therapy for transgender treatment or disorders sex development, such as classic congenital adrenal hyperplasia (CAH). This first case cervix uteri a 46,XX patient confirmed diagnosis non-classic CAH due 21-OHD history mild excess.We describe 34-year-old...

Introduction: Children with classical congenital adrenal hyperplasia (CAH) have an impaired steroid synthesis due to 21-hydroxylase dysfunction and require glucocorticoid replacement. Therapy management in children adolescent is based on auxological, clinical, laboratory monitoring. The measurement of precursors saliva particularly suitable for patients pediatric endocrinology. Methods: In this retrospective longitudinal study 22 CAH, we analyzed 546 samples 17-hydroxyprogesterone (s17-OHP)...

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)

Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, cystine transporter protein, leading to tissue damage, primarily in the kidney and cornea. With introduction cystine-depleting therapy with cysteamine possibility survive adulthood, new challenges skeletal complications are concern, sparse data available regarding bone development. The aim current study was gain more information on density geometry these patients....

Abstract Objectives Auxology is essential for monitoring congenital adrenal hyperplasia (CAH). Data from prospective studies of newborn screening (NBS) are scarce. Methods Analysis data extracted a population-based long-term follow-up survey study children detected through NBS in Bavaria 1999–2018. The based on standardized parent or patient questionnaires, supplemented by medical reports. Height, weight, and treatment 146 children/adolescents with classical CAH were analyzed. entire...

Consumptive hypothyroidism may occur in hepatic hemangioendothelioma. The altered expression of deiodinases inactivates peripheral thyroid hormones. As a result, serum levels free triiodothyronine and thyroxine are reduced to varying degrees. There no established recommendations for the dosage sirolimus this particular indication. We describe first time course treatment with low-dose sirolimus.We present 5-week-old infant hemangioendothelioma severe consumptive hypothyroidism. Due...

Abstract Idiopathic hyperammonemia (IHA) is a severe condition, which has been reported in intensive chemotherapy and bone marrow transplantation. This case elucidates the diagnostic dilemma children undergoing initiation of developing disorders qualitative quantitative consciousness presence (HA) lactic acidosis. The role mitoxantrone as causative agent for IHA elusive. Children are often poor general clinical presentation HA heterogeneous. should be reminder clinicians to check with tumor...

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)

Brief summary: This single-centre retrospective study evaluated cortisol responses during febrile episodes in children with cancer. Low were common and unrelated to current steroid therapy.

Abstract Disclosure: L. Tschaidse: None. S. Wimmer: M. Auer: C. Lottspeich: H.F. Nowotny: I. Dubinski: H. Schmidt: Quinkler: N. Reisch: Background: Due to impaired cortisol synthesis, patients with congenital adrenal hyperplasia (CAH) require lifelong glucocorticoid replacement therapy, including stress dose adjustment, prevent life-threatening crises (AC). Previous studies indicate a high incidence of AC in CAH but also inadequate adjustment. The aim this study was prospectively investigate...

Objectives: There is no evidence for treatment options in Kawasaki’s disease (KD) patients’ refractory to intravenous immunoglobulins (IVIG). These patients are at high risk unfavorable progression of the disease. Biologicals, such as interleukin-1-rezeptorantagonist (IL-1RA) and tumor necrosis factor α inhibitors (TNFα-I) regarded promising pharmaceuticals these patients.

We present a 9-year-old boy with diabetes insipidus. The is treated desmopressin (DDAVP) therapy. Under this therapy, the drinking quantity and laboratory parameters were normal. No nocturia occurred any more. In context of clinically mild infection SARS-CoV-2, duration action DDAVP was significantly prolonged (approximately +50%). original dosage then reintroduced still sufficient until months later. A possible connection to SARS-CoV-2 can be suspected. Our case report should make...

Abstract Turner's syndrome (TS) is a sex chromosome disorder caused by partial loss, complete absence or structural abnormality of one X in females. Special ocular features are often found. Some the abnormalities only cosmetic, such as eyelashes. The present prospective study with 12 TS and control patients demonstrates higher number eyelashes well greater vertical distance between roots compared group. Increased awareness this ophthalmological could be an additional diagnostic tool for...