scholarly journals Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

2021 ◽  
Vol 8 ◽  
Author(s):  
Patryk Lipiński ◽  
Maja Klaudel-Dreszler ◽  
Elzbieta Ciara ◽  
Dorota Jurkiewicz ◽  
Rafał Płoski ◽  
...  
Keyword(s):  
Early Recognition ◽  
Multiorgan Failure ◽  
Cholestatic Jaundice ◽  
Neonatal Cholestasis ◽  
Post Transplantation ◽  
Hydroxylase Deficiency ◽  
Inborn Errors ◽  
Autosomal Recessive Disorders ◽  
End Stage ◽  
Recessive Disorders

Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxylase enzyme activity.Patients and Methods: Here we present the study on two siblings with neonatal cholestasis diagnosed with sterol 27-hydroxylase deficiency. The clinical, biochemical, histological, and molecular presentation at the time of diagnosis and detailed follow-up were described. An extensive overview of the literature regarding patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis was also provided.Results: Patient 1 presented with cholestatic jaundice since 10 weeks of age and developed the end-stage liver disease requiring liver transplantation at 8 months of age but finally succumbed 3 years post-transplantation due to autoimmune hemolytic anemia and multiorgan failure development. Next-generation sequencing performed post mortem, revealed him to be homozygous for the known pathogenic splicing variant c.1184+1G>A in the CYP27A1 gene. Patient 2 (sibling) presented with cholestatic jaundice since the first day of life. Sanger sequencing of CYP27A1 revealed the same results. Chenodeoxycholic acid treatment was introduced just after diagnosis, at 4 months of age. Fourteen patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis were reported in the literature, in most of them presenting as a self-limiting disease.Conclusions: An early recognition and treatment initiation in CTX is essential.

scholarly journals A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

2020 ◽  
Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

scholarly journals Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

2022 ◽  
Vol 12 ◽  
Author(s):  
Sophia Q. Song ◽  
Andrea Gropman ◽  
Robert W. Benjamin ◽  
Francie Mitchell ◽  
Michaela R. Brooks ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Tall Stature ◽  
Clinical Report ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and aldosterone synthesis and excessive androgen production. Adult height is often compromised in affected patients. Intellectual capability remains intact in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, based on previous studies. 47,XXY (KS) is a sex chromosomal aneuploidy that manifests with hypergonadotropic hypogonadism, tall stature, and variable intellectual and behavioral dysfunction. This clinical report describes an infant with 21-hydroxylase deficiency congenital adrenal hyperplasia and 47,XXY. The results of his neurodevelopmental, endocrine, neurological, and physical therapy evaluations during his first 22 months are included and were normal. This is the first published case investigating the neurodevelopmental profile of a patient with the combination of these two genetic disorders.

scholarly journals 11β-hydroxylase deficiency disorders

2018 ◽  
Vol 15 (2) ◽  
pp. 197-209
Author(s):  
Nguyễn Thị Phương Mai ◽  
Nông Văn Hải ◽  
Nguyễn Huy Hoàng
Keyword(s):  
Autosomal Recessive ◽  
Genetic Characterization ◽  
Hydroxylase Deficiency ◽  
Androgen Excess ◽  
Gene Diagnosis ◽  
Autosomal Recessive Disorders ◽  
Classic Form ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. 90% CAH patients respond to 21-hydroxylase deficiency. Less causes include deficiencies of 11β-hydroxylase (11-OH), 17- hydroxylase (17-OH), 3β- hydroxysteroid dehydrogenase (3β- HSD), 20/22 Desmolase etc.. Because of the blocked enzymatic steps, cortisol precursors usually presents with signs of androgen excess which are secreted and cause in masculinization of female external genital, hyponatremia, hyperkalemia and hypovolemia in the classic form due to 21-hydroxylase deficiency. By the early 1950s, it was recognized that in some CAH patients with hypertension develops. This symptom responds to glucorticoid replacement. Most of these patients have an 11β-hydroxylase deficiency. CAH cases arise from 11β-hydroxylase impaired is the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. The incident of 11β-hydroxylase deficiency is about 5% to 8% of cases with CAH, in approximately 1/100,000 live birth. Mutations have been detected from different ethnic backgrounds with the highest incidence in group of Morrocan Jews. This article reviews function of enzyme 11β-hydroxylase in cortisol synthesis of andrenal cortex, structure of CYP11B1 gene, diagnosis and treatment of 11β-hydroxylase deficiency and summarised of researching in Wordwild and in Vietnam. Genetic characterization of CYP11B1 genotype has improved our understanding of the phenotype differences in patients. This could be serve as a the basis for genetic counseling and prenatal diagnosis in the future.

scholarly journals Congenital adrenal hyperplasia – current insights in pathophysiology, diagnostics and management

2021 ◽  
Author(s):  
Hedi L Claahsen – van der Grinten ◽  
Phyllis W Speiser ◽  
S Faisal Ahmed ◽  
Wiebke Arlt ◽  
Richard J Auchus ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Body ◽  
Well Being ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
New Developments ◽  
Autosomal Recessive Disorders ◽  
Alternative Medications ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

Abstract Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

scholarly journals Effects of renal transplantation on erectile dysfunction: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Irham Arif Rahman ◽  
Nur Rasyid ◽  
Ponco Birowo ◽  
Widi Atmoko
Keyword(s):  
Systematic Review ◽  
Erectile Dysfunction ◽  
Kidney Transplantation ◽  
Renal Transplantation ◽  
End Stage Renal Disease ◽  
Erectile Function ◽  
Meta Analysis ◽  
Post Transplantation ◽  
Stage Renal Disease ◽  
End Stage

AbstractErectile dysfunction (ED) is a major global health burden commonly observed in patients with end-stage renal disease (ESRD). Although renal transplantation improves the problem in some patients, it persists in ≈20–50% of recipients. Studies regarding the effects of kidney transplantation on ED present contradictory findings. We performed a systematic review to summarise the effects of kidney transplantation on ED. A systematic literature search was performed across PubMed, Cochrane, and Scopus databases in April 2020. We included all prospective studies that investigated the pre and posttransplant international index of erectile function (IIEF-5) scores in recipients with ED. Data search in PubMed and Google Scholar produced 1326 articles; eight were systematically reviewed with a total of 448 subjects. Meta-analysis of IIEF-5 scores showed significant improvements between pre and post transplantation. Our findings confirm that renal transplantation improves erectile function. Furthermore, transplantation also increases testosterone level. However, the evidence is limited because of the small number of studies. Further studies are required to investigate the effects of renal transplantation on erectile function.

scholarly journals Prognostic Values of Serum Ferritin and D-Dimer Trajectory in Patients with COVID-19

Viruses ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 419
Author(s):  
Fares Qeadan ◽  
Benjamin Tingey ◽  
Lily Y. Gu ◽  
Ashley Hafen Packard ◽  
Esther Erdei ◽  
...  
Keyword(s):  
Hospital Mortality ◽  
Serum Ferritin ◽  
Early Recognition ◽  
Multiorgan Failure ◽  
Logistic Regression Models ◽  
Levels Of Care ◽  
Ventilator Dependence ◽  
Entire Trajectory ◽  
D Dimer ◽  
Pro Inflammatory Cytokines

Cytokine storm syndrome in patients with COVID-19 is mediated by pro-inflammatory cytokines resulting in acute lung injury and multiorgan failure. Elevation in serum ferritin and D-dimer is observed in COVID-19 patients. To determine prognostic values of optimal serum cutoff with trajectory plots for both serum ferritin and D-dimer in COVID-19 patients with invasive ventilator dependence and in-hospital mortality. We used retrospective longitudinal data from the Cerner COVID-19 de-identified cohort. COVID-19 infected patients with valid repeated values of serum ferritin and D-dimer during hospitalization were used in mixed-effects logistic-regression models. Among 52,411 patients, 28.5% (14,958) had valid serum ferritin and 28.6% (15,005) D-dimer laboratory results. Optimal cutoffs of ferritin (714 ng/mL) and D-dimer (2.1 mg/L) revealed AUCs ≥ 0.99 for in-hospital mortality. Optimal cutoffs for ferritin (502 ng/mL) and D-dimer (2.0 mg/L) revealed AUCs ≥ 0.99 for invasive ventilator dependence. Optimal cutoffs for in-house mortality, among females, were lower in serum ferritin (433 ng/mL) and D-dimer (1.9 mg/L) compared to males (740 ng/mL and 2.5 mg/L, respectively). Optimal cutoffs for invasive ventilator dependence, among females, were lower in ferritin (270 ng/mL) and D-dimer (1.3 mg/L) compared to males (860 ng/mL and 2.3 mg/L, respectively). Optimal prognostic cutoffs for serum ferritin and D-dimer require considering the entire trajectory of laboratory values during the disease course. Females have an overall lower optimal cutoff for both serum ferritin and D-dimer. The presented research allows health professionals to predict clinical outcomes and appropriate allocation of resources during the COVID-19 pandemic, especially early recognition of COVID-19 patients needing higher levels of care.

scholarly journals Calcium Metabolism following Renal Transplantation

1994 ◽  
Vol 31 (2) ◽  
pp. 125-128 ◽  
Author(s):  
Anne M Straffen ◽  
DJS Carmichael ◽  
Angela Fairney ◽  
B Hulme ◽  
M Snell
Keyword(s):  
Renal Transplantation ◽  
Calcium Homeostasis ◽  
End Stage Renal Disease ◽  
Post Transplantation ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Transplant Patients ◽  
The Status ◽  
Stage Renal Disease ◽  
End Stage

Abnormalities of calcium homeostasis are a recognized feature of end-stage renal disease. The treatment of choice is renal transplantation, but this does not always result in normalization of the biochemical profile. Persistent hypercalcaemia is well documented and our study was undertaken to investigate the status of the calcium regulating hormones in renal patients post-transplantation. Serum calcium, parathyroid hormone, 1,25-dihydroxyvitamin D (1,25(OH)2D) and osteocalcin concentrations were measured in post-transplant patients. Twenty per cent of the patients had subnormal 1,25(OH)2D concentrations while 55% had biochemical evidence of hyperparathyroidism but only 5% were hypercalcaemic. Time elapsed since transplantation was not correlated with any of the analytes investigated and there was no relationship between persistent impairment of renal function and abnormalities of calcium homeostasis.

scholarly journals Severe Decompression Illness: Case Report, Prehospital Recognition, and Regional Transport Considerations

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Julie Estrada ◽  
David Meurer ◽  
Kevin De Boer ◽  
Karl Huesgen
Keyword(s):  
Early Recognition ◽  
Multiorgan Failure ◽  
Tertiary Care ◽  
Pulmonary Arteries ◽  
Kidney Injury ◽  
Decompression Illness ◽  
Arterial Blood Gas ◽  
Head Ct ◽  
Arterial Blood ◽  
Prehospital Emergency

A 46-year-old male presented to our tertiary care emergency department (ED) with shortness of breath and chest pain following an uneventful four-hour SCUBA dive at 100 feet. His prehospital emergency medical services (EMS) assessment revealed transient hypotension and hypoxia. He later developed progressive skin mottling. Serology was significant for acute kidney injury, transaminitis, hemoconcentration, and hypoxia on an arterial blood gas. Computed tomography (CT) angiography demonstrated intravascular gas throughout the mesenteric and pulmonary arteries as well as the portal venous system. No abnormality was seen on head CT and the patient had normal mental status. Prehospital nonrebreather oxygen therapy was changed to continuous positive airway pressure (CPAP) upon ED arrival, and the patient was intubated prior to transfer to a hyperbaric facility. However, within 24 hours the patient was found to have multiorgan failure, diffuse cerebral edema, and brain death despite no further episodes of hypotension or hypoxia. No intracranial gas was seen on repeat head CT. Our case demonstrates the importance of early recognition of decompression illness by EMS personnel, consideration of ground versus flight transportation of these patients to the nearest hyperbaric center, and the possible use of prehospital CPAP as an alternative to enhance oxygenation.

Cardiac sarcoidosis in the donor heart without extracardiac manifestations

2021 ◽  
Vol 14 (4) ◽  
pp. e241902
Author(s):  
Mohammad Al-Ani ◽  
Mohamad Badie Taha ◽  
Brian D Stewart ◽  
Gabrielle S Graves ◽  
Mustafa M Ahmed ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Functional Imaging ◽  
Heart Block ◽  
Cardiac Sarcoidosis ◽  
Systolic Dysfunction ◽  
Donor Heart ◽  
Post Transplantation ◽  
Aged Woman ◽  
Middle Aged Woman ◽  
End Stage

A middle-aged woman who received heart transplantation for end-stage sarcoid cardiomyopathy developed recurrent cardiac sarcoidosis in the donor heart. She presented 5 years post-transplantation with heart block and systolic dysfunction, without extracardiac involvement. Her disease was unresponsive to corticosteroids. Routine functional imaging may help identify such recurrences.

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