Christa E. Flück
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View article: Characterization of Steroid Metabolic Pathways in Established Human and Mouse Cell Models
Characterization of Steroid Metabolic Pathways in Established Human and Mouse Cell Models Open
Immortalized adrenal, placental and gonadal cell models are often termed steroidogenic based on steroid hormone production and steroidogenic enzymes. Profiling of ‘classic’ steroid metabolites is common; however, downstream untargeted meta…
View article: EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology
EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology Open
Background Endocrine science remains underrepresented in European Union research programmes despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal i…
View article: EndoCompass project: research roadmap for reproductive and developmental endocrinology
EndoCompass project: research roadmap for reproductive and developmental endocrinology Open
Background Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human wellbeing. Analysis of the CORDIS database reveals a persistent gap between the societal impa…
View article: Broader impact and outcome of human NR5A1/SF1 variants
Broader impact and outcome of human NR5A1/SF1 variants Open
Nuclear Receptor Subfamily 5 Group A Member 1, also known as Steroidogenic Factor 1 (NR5A1/SF-1), plays a crucial role in human sex development and steroidogenesis. Pathogenic variants in the NR5A1 gene are well-established causes of 46,XY…
View article: Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibitors: a Position Statement from the Clinical Practice Committee of the European Society for Pediatric Endocrinology (ESPE).
Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibitors: a Position Statement from the Clinical Practice Committee of the European Society for Pediatric Endocrinology (ESPE). Open
Immune checkpoint inhibitors (ICIs) are new cancer therapies that function either by blocking the interaction between programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) or by inhibiting cytotoxic T-lymphocyte antigen…
View article: Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study Open
View article: NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor Open
Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of phenotypes across individuals with disorders of sex development (D…
View article: NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor to Reveal a Complex DSD Phenotype
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor to Reveal a Complex DSD Phenotype Open
Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of phenotypes across individuals with disorders of sex development (D…
View article: Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous <i>TXNRD2</i> splice variant
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous <i>TXNRD2</i> splice variant Open
Objective Adrenal cortisol production occurs through a biosynthetic pathway which depend on NADH and NADPH for energy supply. The mitochondrial respiratory chain and the reactive oxygen species (ROS) detoxification system are therefore imp…
View article: Response to Letter to the Editor From Hoekstra: “Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis”
Response to Letter to the Editor From Hoekstra: “Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis” Open
AS-expressing cells in the zona Glomerulosa transdifferentiate into zona Fasciculata cells (5,6). 1Consistent with these findings, the specific Cre-expressing mouse strain we used achieves nearly 2 complete renewal of the steroidogenic cor…
View article: Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years
Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years Open
Detailed sex- and age-specific reference intervals of multiple, simultaneously quantified steroid metabolites by a novel and specific LC-MS/MS method provides a valuable tool for clinical practice and for future research.
View article: Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant Open
Summary Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3 β -hydroxysteroid dehydrogenase type 2 (…
View article: FDXR variants cause adrenal insufficiency and atypical sexual development
FDXR variants cause adrenal insufficiency and atypical sexual development Open
Genetic defects affecting steroid biosynthesis cause cortisol deficiency and differences of sex development; among these defects are recessive mutations in the steroidogenic enzymes CYP11A1 and CYP11B, whose function is supported by reduci…
View article: Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells
Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells Open
View article: Multiple androgen pathways contribute to the steroid signature of adrenarche
Multiple androgen pathways contribute to the steroid signature of adrenarche Open
The classic and 11-oxy androgen pathways are active in adrenarche. Children with earlier timing of adrenarche have higher serum cortisol levels at late pubertal age, suggesting that early adrenarche might have long-term effects on adrenal …
View article: Characterization of 35 Novel <i>NR5A1</i>/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study
Characterization of 35 Novel <i>NR5A1</i>/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study Open
Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates sex development, steroidogenesis, and reproduction. Genetic variants in NR5A1/SF-1 are common among differences of sex development (DSD) and associate with a …
View article: Prevalence of differences of sex development in children and adolescents in Switzerland from 2000-2019
Prevalence of differences of sex development in children and adolescents in Switzerland from 2000-2019 Open
Objective Reliable data on prevalence of differences of sex development (DSD) are lacking. We aimed to estimate population-based prevalence of DSD in Switzerland. Design Retrospective population-based study including children and adolescen…
View article: A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient Open
Rabson–Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-yea…
View article: Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency Open
This study reveals altered expression of mitochondrial pathways including the tricarboxylic acid cycle and changes in metabolite profiles in malate dehydrogenase 2 deficiency and provides the molecular basis for triheptanoin treatment in t…
View article: Accelerated Early Childhood Growth Is Associated With the Development of Earlier Adrenarche and Puberty
Accelerated Early Childhood Growth Is Associated With the Development of Earlier Adrenarche and Puberty Open
Context Small birth size and increased postnatal growth have been associated with earlier timing of adrenarche and puberty, but it is not well known whether these factors alone or together lead to earlier maturation. Objective This work ai…
View article: Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis
Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis Open
Cholesterol is the precursor of all steroids, but how cholesterol flux is controlled in steroidogenic tissues is poorly understood. The cholesterol exporter ABCG1 is an essential component of the reverse cholesterol pathway and its global …
View article: Mitochondrial Dysfunction Results in Enhanced Adrenal Androgen Production in H295r Cells
Mitochondrial Dysfunction Results in Enhanced Adrenal Androgen Production in H295r Cells Open
View article: Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development Open
Swiss National Science Foundation (320030-197725) and Boveri Foundation Zürich, Switzerland.
View article: FDXR Variants Cause Adrenal Insufficiency and Atypical Sexual Development
FDXR Variants Cause Adrenal Insufficiency and Atypical Sexual Development Open
View article: A Novel Mutation in the INSR Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient
A Novel Mutation in the INSR Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient Open
Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We are reporting the first case of Rabson-Mendenhall syndrome in a Paraguayan patient…
View article: Molecular Basis of Childhood-onset Hypothyroidism: Single Centre Screening by Next-Generation Sequencing in a Cohort of Swiss Children
Molecular Basis of Childhood-onset Hypothyroidism: Single Centre Screening by Next-Generation Sequencing in a Cohort of Swiss Children Open
Introduction:The pathogenesis of COH (childhood onset hypothyroidism) has not been fully elucidated but monogenetic as well as oligogenic causes have been shown to play a role.To investigate the molecular cause of COH using next-generation…
View article: The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis
The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis Open
Novel alternative pathways contribute to the androgen production in healthy and PCOS women. Hyperandrogenism in PCOS is characterized by an overall increase of serum androgens in the classic, backdoor and C11-oxy pathways. While monogeneti…
View article: Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade
Pediatric Transgender Care: Experience of a Swiss Tertiary Center Over the Past Decade Open
Youth with gender dysphoria are increasing in numbers worldwide.We investigated the cohort of gender dysphoric youth for this trend referred to a Swiss University Children's Hospital and assessed clinical characteristics and outcome of hor…
View article: Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations Open
NR5A1/ SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1 /SF-1 c.437G>C/p.Gly146Ala variant is common in individuals with a DSD and has been …
View article: Effects of 2-Year Physical Activity and Dietary Intervention on Adrenarchal and Pubertal Development: The PANIC Study
Effects of 2-Year Physical Activity and Dietary Intervention on Adrenarchal and Pubertal Development: The PANIC Study Open
Context Childhood overweight has been linked to earlier development of adrenarche and puberty, but it remains unknown if lifestyle interventions influence sexual maturation in general populations. Objective To investigate if a 2-year lifes…