Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Endocrines
Special Issues
Feature Papers in Endocrines: 2024
share announcement

Feature Papers in Endocrines: 2024

A special issue of Endocrines (ISSN 2673-396X).

Deadline for manuscript submissions: closed (1 December 2024) | Viewed by 18137

Special Issue Editors

Prof. Dr. Antonio Brunetti

E-Mail Website
Guest Editor
Department of Health Sciences, University “Magna Graecia” of Catanzaro, 88100 Catanzaro, Italy
Interests: pathophysiology of insulin action and insulin signaling; molecular genetics of type 2 diabetes and severe insulin resistance syndromes; gestational diabetes mellitus; pharmacogenetics of type 2 diabetes; obesity, inflammation and cancer; transcriptional regulation of glucose metabolism; mechanisms of gene regulation and transcription networks; pituitary and thyroid tumors; animal models of insulin resistance and type 2 diabetes; diagnostic and prognostic biomarkers and therapeutic targets in diabetes
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Mirabelli

E-Mail Website
Guest Editor
Department of Health Sciences, University “Magna Graecia” of Catanzaro, 88100 Catanzaro, Italy
Interests: diabetes; pharmacological therapies for type 2 diabetes; gestational diabetes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

For this Special Issue, we are interested in high-quality papers published in an open access format, whether submitted by Editorial Board Members or by leading experts invited by the Editorial Office and the Editor-in-Chief. Submissions should be long research papers (or review articles) with full and detailed summaries of the author's own work.

Prof. Dr. Antonio Brunetti
Dr. Maria Mirabelli
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Endocrines is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • obesity, diabetes mellitus and metabolic syndrome
  • lipid metabolism and cardiovascular implications
  • adrenal disorders and electrolyte balance
  • thyroid endocrinology
  • parathyroid disorders, mineral metabolism and bone functions
  • neuroendocrinology and pituitary disorders
  • endocrine oncology
  • andrology and male sexual function
  • female reproductive system and pregnancy endocrinology
  • exercise endocrinology
  • endocrine immunology, cytokines and cell signaling
  • pediatric endocrinology and growth disorders

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (11 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

10 pages, 568 KiB  
Article
How Different Treatments for Acromegaly Modulate Sleep Quality: A Psychometric Study
by Gaspare Alfì, Danilo Menicucci, Dalì Antonia Ciampa, Vito Di Giura, Giulia Marconcini, Claudio Urbani, Fausto Bogazzi and Angelo Gemignani
Endocrines 2024, 5(3), 408-417; https://doi.org/10.3390/endocrines5030030 - 6 Sep 2024
Viewed by 1187
Abstract
Acromegaly is a rare endocrine syndrome characterized by unrestrained growth hormone (GH) secretion from a GH-secreting pituitary neuroendocrine tumor (PitNET). Data on sleep disorders are scanty and mainly linked to Obstructive Sleep Apnea Syndrome (OSAS). This study aimed to evaluate the prevalence of [...] Read more.
Acromegaly is a rare endocrine syndrome characterized by unrestrained growth hormone (GH) secretion from a GH-secreting pituitary neuroendocrine tumor (PitNET). Data on sleep disorders are scanty and mainly linked to Obstructive Sleep Apnea Syndrome (OSAS). This study aimed to evaluate the prevalence of insomnia and sleep quality in a cohort of patients with a low risk of OSAS before and after therapies for acromegaly. A total of 27 naïve acromegalic patients (mean age 55.15 ± 10.53 years) were submitted to a psychometric sleep evaluation and compared to a matched control group of 24 Non-Functioning Pituitary micro-Adenoma patients (mean age 51.08 ± 11.02 years). A psychometric sleep evaluation was carried out 4 years later, after achieving acromegaly control in all patients. The role of different therapies for acromegaly (somatostatin analogues, pegvisomant, or adenomectomy) was evaluated. At the initial evaluation, most untreated acromegalic patients had a higher rate of impaired sleep quality and clinical insomnia than NFPA patients (p = 0.001 ES = 1.381, p = 0.001 ES = 1.654, respectively). Patients treated with somatostatin analogues or pituitary adenomectomy had an improvement in insomnia parameters (p = 0.046 ES = 0.777, p = 0.038 ES = 0.913, respectively). Conversely, in patients treated with pegvisomant, sleep quality and insomnia worsened (p = 0.028 ES = 1.002, p = 0.009 ES = 1.398, respectively). In summary, therapies for acromegaly seem to have divergent effects on perceived sleep disorders. Concerning sleep, somatostatin analogues and adenomectomy seem to have favorable effects on the psychometric parameters of sleep. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Graphical abstract

19 pages, 7813 KiB  
Article
Bitter Phytochemicals Acutely Lower Blood Glucose Levels by Inhibition of Glucose Absorption in the Gut
by Kimberly Marie Palatini Jackson, Reham Mhawish and Slavko Komarnytsky
Endocrines 2024, 5(3), 304-322; https://doi.org/10.3390/endocrines5030022 - 25 Jul 2024
Viewed by 1323
Abstract
For early hominids, frequent encounters with plant foods necessitated the ability to discern bitter poisons and adjust the activity of the gastrointestinal system in anticipation of carbohydrate-rich meals. Plants bitters were also used historically to manage a variety of metabolic and digestive disorders [...] Read more.
For early hominids, frequent encounters with plant foods necessitated the ability to discern bitter poisons and adjust the activity of the gastrointestinal system in anticipation of carbohydrate-rich meals. Plants bitters were also used historically to manage a variety of metabolic and digestive disorders despite an immense structural diversity of bitter phytochemicals without a common molecular target. Our study confirms these observations in a standardized C57BL/6J prediabetic mouse model using 24 model compounds by demonstrating acute lower peak blood glucose values and improved glucose tolerance following intragastric, but not intraperitoneal, treatment. The administration of the synthetic bitter compound denatonium benzoate yielded similar results that were attenuated by co-application of the allosteric inhibitor of the bitter TAS2R receptors. We also show that these effects occur dose-dependently; associate with reduced glucose uptake, increased intracellular [Ca2+] fluxes, and enhanced GLP-1 expression; and are attenuated by the TAS2R inhibitor in the neuroendocrine STC-1 intestinal cells. These findings support the view that inhibition of glucose transport from the intestinal lumen to the blood by TAS2R bitter receptor signaling in the gut may represent a common mechanism in the acute response to oral ingestion of bitter phytochemicals. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

14 pages, 1955 KiB  
Article
Differences in Exercise-Linked Biomarkers between Premenopausal and Postmenopausal Middle-Aged Females
by Anthony J. Giannopoulos, Ahmad Mohammad, Maria I. Retsidou, Jessica A. L. Tucker, Derek P. D. Bornath, Seth F. McCarthy, Rebecca E. K. MacPherson, Tom J. Hazell and Panagiota Klentrou
Endocrines 2024, 5(3), 290-303; https://doi.org/10.3390/endocrines5030021 - 23 Jul 2024
Viewed by 1055
Abstract
While the exercise-induced responses of circulated biomarkers related to inflammation and brain health are well documented in humans, little is known about the effect of menopausal status on these responses. This study compared the responses of inflammatory cytokines and brain-derived neurotrophic factor (BDNF) [...] Read more.
While the exercise-induced responses of circulated biomarkers related to inflammation and brain health are well documented in humans, little is known about the effect of menopausal status on these responses. This study compared the responses of inflammatory cytokines and brain-derived neurotrophic factor (BDNF) to high-intensity exercise between pre- and postmenopausal middle-aged females. Eight premenopausal (44 ± 3 years) and seven postmenopausal (57 ± 2 years) females performed a high-intensity interval training (HIIT) session consisting of 10 × 1 min running intervals (90% maximum heart rate) separated by 1 min passive recovery intervals. Blood samples were collected at baseline (fasted), pre-exercise (postprandial), and at 0, 30, and 90 min post-HIIT and analyzed for interleukin (IL-6) and 10 (IL-10), tumour necrosis factor-alpha (TNF-α), and BDNF. IL-6 significantly increased from pre-exercise to 0 min post-HIIT in postmenopausal (+40%, p = 0.01) and to 30 min post-HIIT in premenopausal females (+60%, p = 0.02). IL-6 remained elevated at 90 min post-HIIT in premenopausal (+104%, p = 0.05) and to a higher degree in postmenopausal females (+385%, p < 0.001). IL-10 showed no response. TNF-α increased from pre- to 0 min post-HIIT (+10%, p = 0.05), then decreased to below pre-exercise at 30 min (−10%, p = 0.02) and 90 min (−5%, p = 0.04) in both groups. BDNF increased immediately post-HIIT in premenopausal (+60%, p < 0.001) but not postmenopausal females. The differences in IL-6 and BDNF responses to HIIT between pre- and postmenopausal females provide evidence of the role of female reproductive hormones in the regulation of these exercise-induced responses. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

20 pages, 3481 KiB  
Article
Male LEW.1WR1 Rats Develop Metabolic Dysfunction, Steatohepatitis, and Liver Damage
by Quiana C. Wilkerson-Vidal, Madushika M. Wimalarathne, Emily C. Hunt, Luis Mercado, Moses Adaji David, Christopher R. Apperson, Alan Smiley, Sharifa Tahirah Love-Rutledge and Bernhard W. G. Vogler
Endocrines 2024, 5(2), 166-185; https://doi.org/10.3390/endocrines5020012 - 19 Apr 2024
Cited by 1 | Viewed by 2332
Abstract
Most patients with non-alcoholic steatohepatitis (NASH) have insulin resistance, and there is a near-universal association between NASH and insulin resistance. Insulin resistance induces lipid accumulation in the liver, leading to the development of metabolic syndrome. However, most NASH rodent models fail to develop [...] Read more.
Most patients with non-alcoholic steatohepatitis (NASH) have insulin resistance, and there is a near-universal association between NASH and insulin resistance. Insulin resistance induces lipid accumulation in the liver, leading to the development of metabolic syndrome. However, most NASH rodent models fail to develop metabolic syndrome. LEW.1WR1 rats that are 23 weeks old showed increased body mass, epididymal fat, and liver mass, suggesting obesity-driven metabolic dysfunction. We have characterized steatosis, inflammation, Mallory–Denk body formation with hematoxylin and eosin (H&E), and fibrosis with Trichome blue staining. The presence of hepatic fibrosis with other features of NASH described above is one of the major strengths of this model since most of the currently available NASH models do not develop microvesicular steatosis or fibrosis. Together with the other important features of NASH described above, we confirm that male LEW.1WR1 rats develop NASH and insulin resistance with a standard diet. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

8 pages, 1165 KiB  
Communication
Protective Activities of Growth Hormone-Releasing Hormone Antagonists against Toxin-Induced Endothelial Injury
by Saikat Fakir and Nektarios Barabutis
Endocrines 2024, 5(1), 116-123; https://doi.org/10.3390/endocrines5010008 - 18 Mar 2024
Cited by 7 | Viewed by 1502
Abstract
GHRH regulates the secretion of GH from the anterior pituitary gland, previously associated with cancer progression and inflammation. An emerging body of evidence suggests that GHRHAnt support endothelial barrier function, but the mechanisms mediating these events are not completely understood. In the present [...] Read more.
GHRH regulates the secretion of GH from the anterior pituitary gland, previously associated with cancer progression and inflammation. An emerging body of evidence suggests that GHRHAnt support endothelial barrier function, but the mechanisms mediating these events are not completely understood. In the present study, it is demonstrated that the GHRHAnt JV-1-36 counteracts barrier dysfunction due to LPS or LTA treatment in HUVECs, utilizing the Dextran–FITC assay. Moreover, it is shown in BPAECs that these bacterial toxins increase ROS generation, and that this effect is counteracted by JV-1-36, which reinstates the redox balance. The possible involvement of NEK2 in the beneficial activities of GHRHAnt in IFN-γ- and LPS-triggered hyperpermeability was also assessed, since that kinase is involved in inflammatory responses. NEK2 was increased in the inflamed cells, and JV-1-36 counteracted those endothelial events. Our data support the beneficial effects of GHRHAnt in toxin-induced endothelial injury. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

Review

Jump to: Research, Other

15 pages, 869 KiB  
Review
The Interplay of the Mammalian Brain and Thyroid Hormones, and the Threat of Endocrine-Disrupting Chemicals
by Nuha Ahmad Dsouki, Bruno Fiorelini Pereira, Roberta Goes da Silva, Vinicius Gonçalves Rodrigues, Rafaella da Silva Brito, Marina Malta Letro Kizys, Maria Izabel Chiamolera, Rui Monteiro Maciel, Caroline Serrano-Nascimento and Gisele Giannocco
Endocrines 2024, 5(4), 501-515; https://doi.org/10.3390/endocrines5040036 - 25 Oct 2024
Viewed by 1014
Abstract
Introduction: During the formation of neural circuits, the developing brain demonstrates extraordinary plasticity, heavily influenced by hormones. These chemical messengers interact with specific receptors to regulate vital physiological functions. The thyroid gland plays a pivotal role in maintaining hormonal balance and guiding brain [...] Read more.
Introduction: During the formation of neural circuits, the developing brain demonstrates extraordinary plasticity, heavily influenced by hormones. These chemical messengers interact with specific receptors to regulate vital physiological functions. The thyroid gland plays a pivotal role in maintaining hormonal balance and guiding brain development. However, emerging threats like endocrine-disrupting chemicals (EDCs) can interfere with this intricate system. EDCs are exogenous substances that can mimic, enhance, or block the actions of endogenous hormones, disrupting hormonal signaling in the brain at various developmental stages. Exposure can impair cognitive function and behavior due to disruptions in thyroid function. Studies indicate that mixtures of EDCs negatively impact brain development, leading to lower IQ and behavioral problems. Reducing EDC exposure through regulations and public awareness is crucial, and further research is needed to elucidate their mechanisms. Conclusions: Protecting vulnerable populations, such as pregnant women and children, is essential through prompt regulatory measures. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

23 pages, 454 KiB  
Review
The Bidirectional Link between Major Depressive Disorder and Type 2 Diabetes: The Role of Inflammation
by Alexandra M. Bodnaruc, Mathilde Roberge, Isabelle Giroux and Céline Aguer
Endocrines 2024, 5(4), 478-500; https://doi.org/10.3390/endocrines5040035 - 9 Oct 2024
Viewed by 767
Abstract
Background/Objectives: There is a bidirectional relationship between major depressive disorder (MDD) and type 2 diabetes (T2D), as MDD increases the risk of T2D by 38% to 67%, and T2D increases the risk of MDD by 15% to 33%. Many factors contribute to [...] Read more.
Background/Objectives: There is a bidirectional relationship between major depressive disorder (MDD) and type 2 diabetes (T2D), as MDD increases the risk of T2D by 38% to 67%, and T2D increases the risk of MDD by 15% to 33%. Many factors contribute to the occurrence of comorbid MDD and T2D, including converging pathophysiological pathways like inflammation. The objective of this review was to comprehensively summarize available evidence on the relationship between MDD, T2D, and inflammation. Results: Although the precise mechanisms linking T2D and MDD are still not fully understood, shared inflammatory mechanisms likely contributes to the heightened risk of developing this comorbidity. To date, the evidence supports that chronic low-grade inflammation is a feature of both MDD and T2D and has been shown to interact with pathways that are relevant to the development of both chronic disorders, including the hypothalamic–pituitary–adrenal (HPA) axis, neuroplastic processes, gut microbiome, insulin resistance, and adipose tissue dysfunction. Through their impact on inflammation, dietary and physical activity interventions can play a role in the risk and management of MDD and T2D. Conclusions: Deepening our understanding of the mechanisms underlying the augmented inflammatory responses observed in individuals with the MDD and T2D comorbidity is essential for tailoring appropriate therapeutic strategies. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
16 pages, 3580 KiB  
Review
Synthetic Endocrine Disruptors in Fragranced Products
by Sawyer Ashcroft, Noura S. Dosoky, William N. Setzer and Prabodh Satyal
Endocrines 2024, 5(3), 366-381; https://doi.org/10.3390/endocrines5030027 - 15 Aug 2024
Cited by 1 | Viewed by 5112
Abstract
Endocrine disruptors are molecules that can interfere with the proper functioning of the endocrine system and lead to harmful effects in living organisms. This review focuses on the impact of synthetic fragrances, which are commonly found in personal care and household products, on [...] Read more.
Endocrine disruptors are molecules that can interfere with the proper functioning of the endocrine system and lead to harmful effects in living organisms. This review focuses on the impact of synthetic fragrances, which are commonly found in personal care and household products, on the endocrine system. The article discusses the different types of hormones in the body and how they interact with receptors to produce signals. It also explores how endocrine disruptors can interfere with hormone signaling and transport, leading to adverse effects in the body. This work underscores the crucial need for further research into the impact of synthetic fragrances on the endocrine system and the importance of using safer alternatives in personal care and household products. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

16 pages, 1058 KiB  
Review
Human and Murine Cell Lines for Adrenocortical Carcinoma and Pheochromocytoma
by Edlira Luca, Andrea Abate, Katharina Wang, Stefan Bornstein, Sandra Sigala, Felix Beuschlein, Svenja Nölting and Constanze Hantel
Endocrines 2024, 5(3), 261-276; https://doi.org/10.3390/endocrines5030019 - 5 Jul 2024
Viewed by 1389
Abstract
Adrenocortical carcinoma (ACC) and pheochromocytoma (PCC) are malignancies originating from distinct layers of the adrenal gland. ACCs arise from the adrenal cortex, are often detected at advanced stages and are associated with poor prognosis. PCCs are mostly benign, arise from the adrenal medulla [...] Read more.
Adrenocortical carcinoma (ACC) and pheochromocytoma (PCC) are malignancies originating from distinct layers of the adrenal gland. ACCs arise from the adrenal cortex, are often detected at advanced stages and are associated with poor prognosis. PCCs are mostly benign, arise from the adrenal medulla and have a variable prognosis, with 10% of PCCs resulting in metastasis. Genetic background strongly influences metastasis of PCCs, and no reliable biomarkers that predict metastatic behavior exist to date. Current therapeutic strategies for both ACCs and PCCs are overall limited. Thus, novel preclinical models and drug screening approaches need to be established to aid in the identification of more promising drugs and treatment schemes. In this review, we summarize the currently available human and murine cell lines for both tumor entities. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

Other

Jump to: Research, Review

13 pages, 3724 KiB  
Case Report
Multiple Osteoporotic Fractures in Cushing Syndrome: A Case Report and a Review of the Literature
by Ariadni Spyroglou, Panagiota Konstantakou, Konstantinos Iliakopoulos, Vasiliki Themelidi, Dorothea Tsekoura, Denise Kolomodi, Georgios Kyriakopoulos, Pantelis Antonakis, Konstantinos Bramis, Achilles Chatziioannou, George Mastorakos, Manousos M. Konstadoulakis and Krystallenia I. Alexandraki
Endocrines 2024, 5(4), 600-612; https://doi.org/10.3390/endocrines5040043 - 6 Dec 2024
Viewed by 360
Abstract
Background: Osteoporotic fractures are a common clinical sign of Cushing syndrome (CS). However, Cushing diagnosis can occur years after this clinical manifestation. Methods: Herein, we present the case of a 45-year-old woman who was referred to our department for further diagnosis and treatment. [...] Read more.
Background: Osteoporotic fractures are a common clinical sign of Cushing syndrome (CS). However, Cushing diagnosis can occur years after this clinical manifestation. Methods: Herein, we present the case of a 45-year-old woman who was referred to our department for further diagnosis and treatment. Results: The patient was already under treatment for arterial hypertension and osteoporosis and was recently diagnosed with dyslipidemia and type 2 diabetes. She reported several previous fractures starting already 8 years before presentation. An adrenal CS was diagnosed, and the patient was treated with laparoscopic adrenalectomy, with a subsequent complete remission of her hypercortisolism. This case report presenting a particularly long time gap between initial osteoporosis signs and the final diagnosis underlines the need for an investigation into secondary osteoporosis in low-energy fractures also in the peripheral skeleton. In this context, we performed a literature review, including case reports with fragility fractures that were attributed to endogenous CS. Conclusions: In summary, a delayed diagnosis of CS in patients with a previous accumulation of such fractures is a worrisome observation and should be considered in everyday clinical practice in order to improve the timely diagnosis and treatment of CS. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

7 pages, 1265 KiB  
Case Report
Adult-Onset Case of Female Idiopathic Hypogonadotropic Hypogonadism and Ataxia: Genetic Background
by Paola Chiarello, Giuseppe Seminara, Sabrina Bossio, Valentina Rocca, Emma Colao, Rodolfo Iuliano and Antonio Aversa
Endocrines 2024, 5(3), 334-340; https://doi.org/10.3390/endocrines5030024 - 5 Aug 2024
Viewed by 1007
Abstract
Adult-onset cases of idiopathic hypogonadotropic hypogonadism (IHH) are characterized by partial or normal puberty development until adolescence and by the impairment of the hypothalamic–pituitary–gonadal (HPG) axis in adulthood. WDR11 and DCC genes are known to be involved in axonal development, particularly of hypothalamic [...] Read more.
Adult-onset cases of idiopathic hypogonadotropic hypogonadism (IHH) are characterized by partial or normal puberty development until adolescence and by the impairment of the hypothalamic–pituitary–gonadal (HPG) axis in adulthood. WDR11 and DCC genes are known to be involved in axonal development, particularly of hypothalamic GnRH neurons, and ciliogenesis. We report a female case of adult-onset hypogonadism and cerebellar ataxia, in which we identified two gene mutations. A panel of 48 genes was set up to search for variants in the causative genes of CHH. The variants found were analyzed following the American College of Medical Genetics and Genomics (ACMG) criteria to define their pathogenicity. We identified a missense heterozygous variant in the WDR11 gene NM_018117.12:c.2306T>G (p.Met769Arg) and a mutation in a second gene DCC resulting in amino acid substitutions NM_005215.4:c.3533C>T (p.Ser1178Phe). These variants were classified as being of uncertain clinical significance. We assume that there is a link between the variants found and the impairment of the gonadotrophic and neurological phenotype of the patient. Therefore, we propose the genetic test to identify the best therapeutic approach to identify infertility in female patients with IHH; we believe it is necessary to test WDR11 and DCC genes in larger populations with the same condition to introduce it in future protocols of assessment. Full article
(This article belongs to the Special Issue Feature Papers in Endocrines: 2024)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-11
Back to TopTop