Non-classical 11 β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature
ConclusionsWe report a novel heterozygous mutation ofCYP11B1 (c.905_907delinsTT), enriching the spectrum of genetic variants ofCYP11B1. This finding provides a valuable case reference for early diagnosis of non-classical patients with 11 β-OHD. (Source: Endocrine)
Source: Endocrine - February 27, 2024 Category: Endocrinology Source Type: research
Association between smoking and alcohol drinking and benign adrenal tumors: a Mendelian randomization study
ConclusionTwo-sample Mendelian randomization analysis showed a causal effect between smoking but not alcohol consumption and benign adrenal tumors. (Source: Endocrine)
Source: Endocrine - February 26, 2024 Category: Endocrinology Source Type: research
“Eve is not Adam” – differences in efficacy, safety and clinical outcomes with lipoprotein apheresis between sexes
ConclusionsSex differences in FH subjects not only affect the diagnosis and treatment but also influence varied responses to the treatment itself. (Source: Endocrine)
Source: Endocrine - February 26, 2024 Category: Endocrinology Source Type: research
Defining inappropriate thyroid biopsy? —Proposed definition based on clinical evidence and stakeholder engagement
ConclusionAssessment of the appropriateness of a thyroid biopsy is possible. Although, thyroid nodule ultrasound risk assessment is a pivotal factor for this assessment, additional factors should be considered (e.g., life expectancy, personal risk factors for thyroid cancer, patient preferences). Yet, additional efforts are needed to operationalize the objective implementation of these factors in clinical practice. (Source: Endocrine)
Source: Endocrine - February 26, 2024 Category: Endocrinology Source Type: research
Genetic landscape of 482 thyroid carcinomas: analysis with the national datacenter for cancer genomic medicine in Japan
ConclusionsPTC was the most common histologic type of TC for which genetic profiling was performed in Japan, followed by ATC. Since the most common targetable mutation is theBRAF mutation, practical application of BRAF-targeted therapy can be an important treatment option for Japanese patients with TC. (Source: Endocrine)
Source: Endocrine - February 26, 2024 Category: Endocrinology Source Type: research
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis
ConclusionsSEC31A might underlie a previously unrecognised clinical syndrome comprising gonadal dysgenesis, multiple pituitary hormone deficiencies, dysmorphic features and developmental delay. However, a variant that remains undetected, in a different gene, may alternatively be causal in this family. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
Serum prolactin levels were positively related to metabolic indexes and disorders in male obese patients
ConclusionSerum prolactin levels were positively associated with deterioration of metabolic indexes in male obese patients, as well as NAFLD and morbid obesity. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
Unraveling the connection between Hashimoto ’s Thyroiditis and non-alcoholic fatty liver disease: exploring the role of CD4+central memory T cells through integrated genetic approaches
ConclusionThis study delves into the potential connections between HT and NAFLD through integrated genetic methods. Our research reveals an elevated proportion of CD4+CM cells within T cells in both HT and NAFLD. Through MR and colocalization analysis, we identify specific genes causally linked to HT and NAFLD, such as MAGI3. Ultimately, based on MAGI3 expression levels, we categorize CD4+CM cells into MAGI3+CD4+CM cells and MAGI3−CD4+CM cells, uncovering significant differences between them through functional analyses. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis
ConclusionsSEC31A might underlie a previously unrecognised clinical syndrome comprising gonadal dysgenesis, multiple pituitary hormone deficiencies, dysmorphic features and developmental delay. However, a variant that remains undetected, in a different gene, may alternatively be causal in this family. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
Serum prolactin levels were positively related to metabolic indexes and disorders in male obese patients
ConclusionSerum prolactin levels were positively associated with deterioration of metabolic indexes in male obese patients, as well as NAFLD and morbid obesity. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
Unraveling the connection between Hashimoto ’s Thyroiditis and non-alcoholic fatty liver disease: exploring the role of CD4+central memory T cells through integrated genetic approaches
ConclusionThis study delves into the potential connections between HT and NAFLD through integrated genetic methods. Our research reveals an elevated proportion of CD4+CM cells within T cells in both HT and NAFLD. Through MR and colocalization analysis, we identify specific genes causally linked to HT and NAFLD, such as MAGI3. Ultimately, based on MAGI3 expression levels, we categorize CD4+CM cells into MAGI3+CD4+CM cells and MAGI3−CD4+CM cells, uncovering significant differences between them through functional analyses. (Source: Endocrine)
Source: Endocrine - February 24, 2024 Category: Endocrinology Source Type: research
Association between thyroid autoimmunity and bone mineral density in patients with type 2 diabetes mellitus: a cross-sectional study
ConclusionsIn T2DM patients, TPOAb and TGAb levels are negatively correlated with LS, FN and WB BMD, and TPOAb is an independent influencing factor for diabetic osteoporosis, and TPOAb has a certain predictive value for the occurrence and development of diabetic osteoporosis clinically. (Source: Endocrine)
Source: Endocrine - February 23, 2024 Category: Endocrinology Source Type: research
Integrated machine learning and deep learning for predicting diabetic nephropathy model construction, validation, and interpretability
ConclusionThe model has a good predictive value and is expected to help in the early diagnosis and screening of clinical DN. (Source: Endocrine)
Source: Endocrine - February 23, 2024 Category: Endocrinology Source Type: research
Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
ConclusionAfter undergoing MS-MLPA and exome sequencing, a novel deletion spanning 4.18 Mb on the 2q37 region was identified in one male patient, clarifying the diagnosis of 2q37 microdeletion syndrome with PTH resistance. The new genetic discovery added to our understanding of the molecular defects that cause inactivating PTH/PTH-related protein signaling disorders (iPPSDs). (Source: Endocrine)
Source: Endocrine - February 23, 2024 Category: Endocrinology Source Type: research
Association between thyroid autoimmunity and bone mineral density in patients with type 2 diabetes mellitus: a cross-sectional study
ConclusionsIn T2DM patients, TPOAb and TGAb levels are negatively correlated with LS, FN and WB BMD, and TPOAb is an independent influencing factor for diabetic osteoporosis, and TPOAb has a certain predictive value for the occurrence and development of diabetic osteoporosis clinically. (Source: Endocrine)
Source: Endocrine - February 23, 2024 Category: Endocrinology Source Type: research
