The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. Int J Endocrinol. 2020;2020:2190508 Authors: Heshmatzad K, Mahdieh N, Rabbani A, Didban A, Rabbani B Abstract Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. A comprehensive search was conducted to find the reported variants of MC2R and MRAP genes. In silico pathogenic analysis was performed for the reported variants. PCR amplification and sequencing were performed for three patients. Structural analysis, modeling, and interactome analysis were applied to characterize novel MC2R variants and their proteins. About 80% of MC2R-related cases showed the clinical symptoms which were diagnosed at  G (p.Leu43Arg) and c.251T > A (p.Ile84Asn), were found in two patients at the age of above and below 2 years, respectively. Mutations in MC2R and MRAP genes are the main cause of FGD. Genetic studies and in silico analysis will help to confirm the diagnosis. PMID: 32952553 [PubMed]
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research

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ConclusionHealthcare utilization and costs of prolactinoma patients are related to patient-reported HRQoL, bother by disease and needs for support. Therefore, addressing patients ’ HRQoL and needs is a way forward to improve efficiency of care and patients’ health status.
Source: Pituitary - Category: Endocrinology Source Type: research
In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
Authors: Ntali G, Tsagarakis S Abstract INTRODUCTION: Pituitary gland is vulnerable to traumatic brain injury (TBI). As a result a series of neuroendocrine changes appear after head injury; in many occasions they reverse with time, while occasionally new late onset changes may develop. AREAS COVERED: In this review, we focus on the prevalence of anterior and posterior pituitary hormonal changes in the acute and chronic post-TBI period in both children and adults. Moreover, we present evidence supporting the need for evaluating pituitary function along with the current suggestions for the most appropriate screen...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
This case of a COVID-19 patient with vasopressor-resistant hypotension highlights the need to be aware of acute adrenal insufficiency as a non-respiratory presentation of SARS-CoV-2 infection.Journal of Medical Case Reports
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Family Medicine/Primary Care Journal Article Source Type: news
ConclusionOur data indicate that the current cut-off to define normal HPA axis response in children after insulin-induced hypoglycemia warrants reevaluation to avoid over-diagnosis of adrenal insufficiency. Our results suggest that peak serum cortisol levels  ≥ 15.4 µg/dL (428 nmol/L) in children undergoing ITT might represent a normal cortisol response to stress, regardless of age, BMI or GH secretory capacity.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
CONCLUSION: We determined etiologies in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features. PMID: 32938577 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
AbstractPurposeCOVID-19 is a novel threat to patients with adrenal insufficiency (AI), whose life expectancy and quality (QoL) are impaired by an increased risk of infections and stress-triggered adrenal crises (AC). If infected, AI patients require prompt replacement tailoring. We assessed, in a cohort of AI patients: prevalence and clinical presentation of COVID-19; prevalence of AC and association with intercurrent COVID-19 or pandemic-related psychophysical stress; lockdown-induced emotional burden, and health-related QoL.MethodsIn this monocentric (Ancona University Hospital, Italy), cross-sectional study covering Feb...
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
What is the most appropriate hydrocortisone dose and delivery mode to prevent adrenal crisis among patients with adrenal insufficiency?Journal of Clinical Endocrinology &Metabolism
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
Conclusions This study demonstrated the safety of nevanimibe at doses of up to ~6000  mg BID. As the total number of tablets required to achieve an MTD exceeded practical administration limits, a maximumfeasible dose was defined. Given that the expected exposure levels necessary for an apoptotic effect could not be achieved, the current formulation of nevanimibe had limited efficacy in patients with advanced ACC.
Source: Investigational New Drugs - Category: Drugs & Pharmacology Source Type: research
Women who misuse corticosteroid creams for cosmetic skin lightening may be at risk of developing adrenal insufficiency, according to research presented at the European Society of Endocrinology’s digital Congress, e-ECE 2020.Times Now News
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
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