A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10...
Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research
46,XX aromatase deficiency: a single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters
CONCLUSION: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.PMID:37348676 | DOI:10.1016/j.ando.2023.05.010 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 22, 2023 Category: Endocrinology Authors: Chethan Yamichannaiah Saba Samad Memon Vijaya Sarathi Anurag Ranjan Lila Rohit Barnabas Darpan Raghav Vishwambhar V Bhandare Sneha Arya Hemangini Thakkar Virendra Ashokrao Patil Manjiri Karlekar Ambarish Kunwar Tushar Bandgar Source Type: research
46,XX aromatase deficiency: a single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters
CONCLUSION: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.PMID:37348676 | DOI:10.1016/j.ando.2023.05.010 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 22, 2023 Category: Endocrinology Authors: Chethan Yamichannaiah Saba Samad Memon Vijaya Sarathi Anurag Ranjan Lila Rohit Barnabas Darpan Raghav Vishwambhar V Bhandare Sneha Arya Hemangini Thakkar Virendra Ashokrao Patil Manjiri Karlekar Ambarish Kunwar Tushar Bandgar Source Type: research
Dietary intervention in adult rats exposed to a high-sugar diet early in life permanently impairs sperm quality
Ann Endocrinol (Paris). 2023 Jun 19:S0003-4266(23)00115-4. doi: 10.1016/j.ando.2023.06.002. Online ahead of print.ABSTRACTChildhood obesity predicts the presence of adult obesity. Obesity is associated with poor sperm quality. We hypothesized that exposure to a high-sugar diet (HSD) in early life would cause permanent histomorphology damage to the testes, resulting in reduced sperm quality in adult life. Wistar rats (aged 21 days) were divided into four groups (n = 6). In the first experiment, the rats received tap water (control) and a 30% sucrose diet for two months (S30). In the second experiment, the control and 30% su...
Source: Annales d'Endocrinologie - June 21, 2023 Category: Endocrinology Authors: Yeimy Mar De Le ón-Ramírez Eliut P érez Sánchez Adriana Corona P érez Cristhian Neftaly S ánchez-Solís Jorge Rodr íguez Antolín Leticia Nicol ás Toledo Source Type: research
Dietary intervention in adult rats exposed to a high-sugar diet early in life permanently impairs sperm quality
Ann Endocrinol (Paris). 2023 Jun 19:S0003-4266(23)00115-4. doi: 10.1016/j.ando.2023.06.002. Online ahead of print.ABSTRACTChildhood obesity predicts the presence of adult obesity. Obesity is associated with poor sperm quality. We hypothesized that exposure to a high-sugar diet (HSD) in early life would cause permanent histomorphology damage to the testes, resulting in reduced sperm quality in adult life. Wistar rats (aged 21 days) were divided into four groups (n = 6). In the first experiment, the rats received tap water (control) and a 30% sucrose diet for two months (S30). In the second experiment, the control and 30% su...
Source: Annales d'Endocrinologie - June 21, 2023 Category: Endocrinology Authors: Yeimy Mar De Le ón-Ramírez Eliut P érez Sánchez Adriana Corona P érez Cristhian Neftaly S ánchez-Solís Jorge Rodr íguez Antolín Leticia Nicol ás Toledo Source Type: research
Cardio-metabolic risk in Rotterdam clinical phenotypes of PCOS
CONCLUSION: Cardio-metabolic risk is similar in all phenotypes of PCOS despite differences in anthropometry and AMH levels. All women diagnosed with PCOS should undergo screening and lifelong surveillance for MS, IR and cardiovascular diseases, irrespective of clinical phenotype or AMH level. This needs further validation in prospective multi-center studies across the country, with larger sample sizes and adequate power.PMID:37328054 | DOI:10.1016/j.ando.2023.06.001 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 16, 2023 Category: Endocrinology Authors: Subarna Mitra Gautom K Saharia Saubhagya K Jena Source Type: research
Cardio-metabolic risk in Rotterdam clinical phenotypes of PCOS
CONCLUSION: Cardio-metabolic risk is similar in all phenotypes of PCOS despite differences in anthropometry and AMH levels. All women diagnosed with PCOS should undergo screening and lifelong surveillance for MS, IR and cardiovascular diseases, irrespective of clinical phenotype or AMH level. This needs further validation in prospective multi-center studies across the country, with larger sample sizes and adequate power.PMID:37328054 | DOI:10.1016/j.ando.2023.06.001 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 16, 2023 Category: Endocrinology Authors: Subarna Mitra Gautom K Saharia Saubhagya K Jena Source Type: research
Cardio-metabolic risk in Rotterdam clinical phenotypes of PCOS
CONCLUSION: Cardio-metabolic risk is similar in all phenotypes of PCOS despite differences in anthropometry and AMH levels. All women diagnosed with PCOS should undergo screening and lifelong surveillance for MS, IR and cardiovascular diseases, irrespective of clinical phenotype or AMH level. This needs further validation in prospective multi-center studies across the country, with larger sample sizes and adequate power.PMID:37328054 | DOI:10.1016/j.ando.2023.06.001 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 16, 2023 Category: Endocrinology Authors: Subarna Mitra Gautom K Saharia Saubhagya K Jena Source Type: research
Cardio-metabolic risk in Rotterdam clinical phenotypes of PCOS
CONCLUSION: Cardio-metabolic risk is similar in all phenotypes of PCOS despite differences in anthropometry and AMH levels. All women diagnosed with PCOS should undergo screening and lifelong surveillance for MS, IR and cardiovascular diseases, irrespective of clinical phenotype or AMH level. This needs further validation in prospective multi-center studies across the country, with larger sample sizes and adequate power.PMID:37328054 | DOI:10.1016/j.ando.2023.06.001 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 16, 2023 Category: Endocrinology Authors: Subarna Mitra Gautom K Saharia Saubhagya K Jena Source Type: research
Case report: Non-PTH-dependent hypercalcemia in pregnancy: consider CYP24A1 mutations
Ann Endocrinol (Paris). 2023 Jun 13:S0003-4266(23)00112-9. doi: 10.1016/j.ando.2023.05.009. Online ahead of print.NO ABSTRACTPMID:37321475 | DOI:10.1016/j.ando.2023.05.009 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 15, 2023 Category: Endocrinology Authors: Madleen Lemaitre Arnaud Lionet Victor Fages Marie-Christine Vantyghem Damien Subtil Anne Vambergue Source Type: research
Case report: Non-PTH-dependent hypercalcemia in pregnancy: consider CYP24A1 mutations
Ann Endocrinol (Paris). 2023 Jun 13:S0003-4266(23)00112-9. doi: 10.1016/j.ando.2023.05.009. Online ahead of print.NO ABSTRACTPMID:37321475 | DOI:10.1016/j.ando.2023.05.009 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 15, 2023 Category: Endocrinology Authors: Madleen Lemaitre Arnaud Lionet Victor Fages Marie-Christine Vantyghem Damien Subtil Anne Vambergue Source Type: research
Factors for second non-diagnostic ultrasound-guided fine-needle aspiration cytology in thyroid nodules
CONCLUSION: Male gender, advanced age, anticoagulant/antiplatelet drug therapy, hypoechogenic nodules and microcalcified nodules are likely factors for second ND FNAC. Nodules with two ND FNACs were rarely malignant, and a more conservative approach in these cases is not unsafe.PMID:37308033 | DOI:10.1016/j.ando.2023.05.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - June 12, 2023 Category: Endocrinology Authors: In ês Cosme Ema Nobre Maria Jo ão Bugalho Source Type: research
