6 research outputs found
Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden
BackgroundUndiagnosed congenital adrenal hyperplasia (CAH) can cause adrenal incidentalomas, but the frequency is unclear.ObjectivesThis study aimed to investigate the prevalence of CAH in a population with adrenal incidentalomas and report the clinical characterization.Material and methodsThis was a prospective study performed at a regional hospital from 2016 to 2021. Patients with adrenal incidentalomas were investigated with an adrenocorticotropic hormone (ACTH)-stimulation test in addition to hormonal workup. Serum cortisol and 17-hydroxyprogesterone (17OHP) were analyzed. Individuals with a basal or stimulated 17OHP â„30 nmol/L were classified as suspicious non-classic CAH, and a CYP21A2-gene analysis was performed in these subjects.ResultsIn total, 320 individuals with adrenal incidentalomas were referred to the center, and of these individuals, an ACTH-stimulation test was performed in 222 (median age, 67 (24â87) years; 58.6% women; and 11.7% with bilateral lesions). None of the individuals presented a basal 17OHP â„30 nmol/L, but there were 8 (3.6%) who did after ACTH stimulation. Four of these subjects (50%) presented bilateral lesions, and the tumor size was larger compared to that of the individuals with a stimulated 17OHP <30 nmol/L (median, 38 (19â66) vs. 19 (11â85) mm, p=0.001). A CYP21A2 variation (p.Val282Leu) was detected in one of the eight subjects with a stimulated 17OHP â„30 nmol/L, i.e., the patient was a heterozygotic carrier. None of the eight subjects presented with cortisol insufficiency or clinical signs of hyperandrogenism.ConclusionsThe prevalence of non-classic CAH in an adrenal incidentaloma cohort was 3.6% based on stimulated 17OHP and 0% based on gene analysis. CAH should be considered in AI management in selected cases and confirmed by genetic analysis
FrÄn Grundton till b2 : Ett jazzmetodiskt Forskningsprojekt : Avhandling för graden PhD i populÀrmusik
Denna avhandling presenterar ett forskningsprojekt som fokuserat
pÄ ökad kunskap om improvisationsmetodik och improvisatorisk
utveckling. MĂ„let med projektet var att prova och dokumentera en
ledande jazzimprovisatörs undervisningsmetodik. Elbasisten Gary
Willis frÄn bandet Tribal Tech fyllde rollen som lÀrare i projektet. I
tillÀgg ville jag fördjupa mig i jazzimprovisation och utveckla mina
solistiska improvisationsfÀrdigheter. DÄ vidareutveckling stod i
centrum anvÀnde jag aktionsforskning som metod. Vidareutveckling
Àr en primÀr mÄlsÀttning i sÄdan forskning. För att demonstrera
detta gjorde jag inspelningen Past:Present (2013) som startpunkt för
forskningen. Den största och viktigaste perioden var sedan nÀr jag
studerade för Gary Willis i tvÄ Är. Efter denna period gjorde jag
inspelningen Present:Future (2015) som fungerar som en
dokumentation av mina fÀrdigheter som improvisatör efter att
studierna med Willis var avslutade. Willis kommenterade de tvÄ
inspelningarna och dessa kommentarer ligger till grund för mina
observationer och reflektioner över aktionsforskningen. Med
utgÄngspunkt i denna metod presenteras forskningens resultat.publishedVersio
Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden
Background: Undiagnosed congenital adrenal hyperplasia (CAH) can cause adrenal incidentalomas, but the frequency is unclear. Objectives: This study aimed to investigate the prevalence of CAH in a population with adrenal incidentalomas and report the clinical characterization. Material and methods: This was a prospective study performed at a regional hospital from 2016 to 2021. Patients with adrenal incidentalomas were investigated with an adrenocorticotropic hormone (ACTH)-stimulation test in addition to hormonal workup. Serum cortisol and 17-hydroxyprogesterone (17OHP) were analyzed. Individuals with a basal or stimulated 17OHP â„30 nmol/L were classified as suspicious non-classic CAH, and a CYP21A2-gene analysis was performed in these subjects. Results: In total, 320 individuals with adrenal incidentalomas were referred to the center, and of these individuals, an ACTH-stimulation test was performed in 222 (median age, 67 (24â87) years; 58.6% women; and 11.7% with bilateral lesions). None of the individuals presented a basal 17OHP â„30 nmol/L, but there were 8 (3.6%) who did after ACTH stimulation. Four of these subjects (50%) presented bilateral lesions, and the tumor size was larger compared to that of the individuals with a stimulated 17OHP <30 nmol/L (median, 38 (19â66) vs. 19 (11â85) mm, p=0.001). A CYP21A2 variation (p.Val282Leu) was detected in one of the eight subjects with a stimulated 17OHP â„30 nmol/L, i.e., the patient was a heterozygotic carrier. None of the eight subjects presented with cortisol insufficiency or clinical signs of hyperandrogenism. Conclusions: The prevalence of non-classic CAH in an adrenal incidentaloma cohort was 3.6% based on stimulated 17OHP and 0% based on gene analysis. CAH should be considered in AI management in selected cases and confirmed by genetic analysis
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report
Abstract Background Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described, but is potentially underdiagnosed in the emergency room. In the case of acute hyperammonemia, prompt diagnosis is essential to minimize the risk of brain damage and death. Case presentation We present the diagnostics, clinical course, and treatment of a 48-year-old Caucasian man presenting with unexplained unconsciousness in the emergency room. A web search by a family member led to the suspicion of urea cycle disorder. Subsequent analysis of plasma ammonia and amino acids in plasma and urine demonstrated a pattern typical for hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. The diagnosis was confirmed by genetic analysis which revealed two heterozygous mutations in the SLC25A15 gene. The cause of the hyperammonemia crisis was acute upper gastrointestinal hemorrhage, leading to protein overload and subsequent cerebral edema. Continuous renal replacement therapy, scavenger treatment, and tightly controlled nutrition were useful in preventing hyperammonemia and recurrence of cerebral edema. Conclusions The case emphasizes the importance of taking rare metabolic genetic disorders into consideration in patients with prolonged unexplained unconsciousness