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Muyang He M He, Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, China

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Haijia Xu H Xu, Endocrinology and Metabolism, Zhongshan Hospital Fudan University, Shanghai, China

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Zhen Ying Z Ying, Endocrinology and Metabolism, Zhongshan Hospital Fudan University, Shanghai, China

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Chen Ying C Ying, Shanghai, United Kingdom of Great Britain and Northern Ireland

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Xiaoying Li X Li, Department of Endocrinology, Fudan University Shanghai, Shanghai, 200032, China

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Acquired hypothalamic obesity (HO) is a rare type of obesity caused by acquired disease-related and/or treatment-related damage to the hypothalamus, most commonly craniopharyngiomas. Effective management of HO is critical due to its significant impact on quality of life and resistance to conventional treatments. This systematic review and meta-analysis aims to evaluate the 12-month, 24-month and 60-month outcomes of bariatric surgery for HO caused by CPs compared with patients with common obesity (CO). Relevant studies were identified in MEDLINE and EMBASE databases until May 2024. A total of 4 matched case-control studies were included. The results indicated that bariatric surgery significantly reduced weight in patients with hypothalamic obesity (22.98±14.22/21.47 ± 9.61/19.07±16.12 %total weight loss, 12/24/60 months after surgery) but the effect was significantly less than in common obesity controls (-6.17/-6.41/-7.72 %total weight loss 12/24/60 months after surgery). Bariatric surgery can significantly reduce body weight in craniopharyngiomas-related hypothalamic obesity, but the effect is less than in matched patients with common obesity. Further studies are necessary to determine the best surgical or multidisciplinary approach to the treatment of acquired hypothalamic obesity.

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Jian Gong School of Basic Medicine, Hubei University of Chinese Medicine, Wuhan, China

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Yinjuan Lv School of Basic Medicine, Hubei University of Chinese Medicine, Wuhan, China

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Yuhao Meng Hubei University of Chinese Medicine, Wuhan, China

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Weiheng Zhang Hubei University of Chinese Medicine, Wuhan, China

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Xiaocui Jiang Hubei University of Chinese Medicine, Wuhan, China

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Min Xiao Laboratory Animal Center, Hubei University of Chinese Medicine, Wuhan, China

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Prenatal stress can lead to the programming of the neuroendocrine system in male offspring, disrupting the hypothalamic testicular axis and adversely affecting the reproductive health of male offspring. This study aimed to determine the long-term effects of prenatal stress on the KISS1 system in male offspring and the effects on reproductive function in male offspring. Sixteen pregnant females were divided into a prenatal control group (PC, n = 8) and a prenatal stress group (PS, n = 8). The PS group was modeled with chronic unpredictable mild stress (CUMS) from day 1 of gestation to full-term delivery. Differences between the two groups in various maternal parameters, including glucocorticoid secretion, litter size, and the effects of male offspring birth weight, the KISS1 system, and reproductive function, were determined. Male offspring of PS dams had lower birth weights compared to prenatal controls.KISS1 gene expression is reduced at birth and in adult PS offspring, and its receptor KISS1-R protein is similarly reduced in PS offspring at birth and adulthood. In adulthood, PS male offspring show significantly reduced sex hormone production, altered testicular morphology, reduced maturation of their supporting cells, and decreased expression of connexin 43 (CX43), leading to an altered sperm microenvironment and reduced sperm quality. In conclusion, prenatal stress leads to adverse changes in the KISS1 system in male offspring and decreased reproductive function.

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Alessandro Barbato Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Giulia Gori Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Francesca Pochiero Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Sara Bargiacchi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Giovanna Traficante Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Viviana Palazzo Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Lucia Tiberi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Procopio Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy
NEUROFARBA Department, University of Florence, Florence, Italy

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Angela Peron Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

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Stefano Stagi Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Context

Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is a form of COX deficiency associated with pathogenic variants in the SCO1 gene.

Case description

We describe three patients with MC4DN4 with developmental and epileptic encephalopathy (DEE), hypopituitarism, and SCO1 pathogenic variants. These patients’ phenotypes considerably differ from previously reported MC4DN4 phenotypes as they associate DEE with progressive hypopituitarism and survival beyond the first months after birth. Pituitary deficiency in these patients progressively worsened and mainly involved growth hormone secretion and thyroid function.

Conclusions

Our findings expand knowledge of phenotypic variability in MC4DN4 and suggest that SCO1 is a candidate gene for genetic hypopituitarism and DEE.

Significance statement

Our paper describes three patients affected by MC4DN4 with hypopituitarism and developmental and epileptic encephalopathy (DEE), two features that have never been associated with this condition. In addition, we reviewed the clinical features of all previous cases of MC4DN4 to give the other clinicians a wide picture of the clinical phenotype of this genetic disease. We hope that the publication of our data may help others to identify this disease and consider the chance to analyze the SCO1 gene in cases of DEE associated with pituitary dysfunction. Our article contributes to expanding the spectrum of genetic hypopituitarism and proposes a model to explain an association between this condition, mitochondrial anomalies, and neurodevelopmental defects.

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Lukas Plachy Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Shenali Anne Amaratunga Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study. Their median age was 11.2 years, pre-treatment height was −3.2 s.d., and maximal stimulated GH was 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27 had central hypothyroidism, ten had hypogonadotropic hypogonadism, and three had central diabetes insipidus. Twenty-six children had a midline defect on MRI. Children with clinical suspicion of a specific genetic disorder underwent genetic examination of the gene(s) of interest via Sanger sequencing or array comparative genomic hybridization. Children without a detected causal variant after the first-tier testing or with no suspicion of a specific genetic disorder were subsequently examined using next-generation sequencing growth panel. Variants were evaluated by the American College of Medical Genetics standards. Genetic etiology was confirmed in 7/34 (21%) children. Chromosomal aberrations were found in one child (14q microdeletion involving the OTX2 gene). The remaining 6 children had causative genetic variants in the GLI2, PROP1, POU1F1, TBX3, PMM2, and GNAO1 genes, respectively. We elucidated the cause of CPHD in a fifth of the patients. Moreover, our study supports the PMM2 gene as a candidate gene for CPHD and suggests pathogenic variants in the GNAO1 gene as a potential novel genetic cause of CPHD.

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Jindong Wan J Wan, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, China

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Sen Liu S Liu, Department of Cardiology, Chengdu Medical College, Chengdu, China

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Tao Luo T Luo, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, China

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Yi Yang Y Yang, Department of Cardiology, Chengdu Medical College, Chengdu, 610083, China

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Dan Wang D Wang, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, China

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Xinquan Wang X Wang, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, China

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Peng Zhou P Zhou, Department of Cardiology, Chengdu Medical College, Chengdu, 610083, China

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Jixin Hou J Hou, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, China

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Peijian Wang P Wang, Department of Cardiology, Chengdu Medical College The First Affiliated Hospital, Chengdu, 610500, China

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Background: Primary aldosteronism (PA) is a prevalent cause of endocrine hypertension characterized by an excess of aldosterone that can induce proinflammatory, prooxidant, and profibrotic effects on the heart. Emerging evidence indicates a heightened incidence of atrial fibrillation (AF) in patients with PA, suggesting a significant association between the two conditions. However, the underlying mechanisms remain unclear. The purpose of this study was to investigate the molecular networks associated with the development of both PA and AF.

Methods: Datasets were obtained from the Gene Expression Omnibus (GEO) database. Hub genes were identified by enrichment and protein‒protein interaction analysis. These hub genes were subsequently validated via two independent external datasets: GSE60042 and GSE41177. Following the identification of shared genes, quantitative real-time polymerase chain reaction (qPCR) was employed to verify the reliability of the dataset and to further confirm the presence of shared genes in clinical samples.

Results: The results of the common gene analysis revealed that immune and inflammatory responses may be shared features in the pathophysiology of PA and AF. One hub gene, specifically tumor necrosis factor superfamily member 10 (TNFSF10), was identified through various analyses and subsequently validated via qPCR. Compared with that in healthy controls, the expression level of TNFSF10 was lower in PA patients with AF.

Conclusion: Our findings indicate that TNFSF10 may play a role in the pathophysiology of AF complications associated with PA conditions, suggesting that it could serve as a potential target for the diagnosis or treatment of PA patients complicated with AF.

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Budoor Alemadi Endocrinology Department, Dubai Hospital, Dubai Health, Dubai, UAE

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Fauzia Rashid Endocrinology Department, Dubai Hospital, Dubai Health, Dubai, UAE

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Ali Alzahrani King Faisal Specialist Hospital & Research Centre, Department of Medicine, Riyadh, Saudi Arabia

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Primary hyperparathyroidism has emerged as a prevalent endocrine disorder in clinical settings, necessitating in most cases, surgical intervention for the removal of the diseased gland. This condition is characterised by overactivity of the parathyroid glands, resulting in excessive parathyroid hormone production and subsequent disturbances in calcium homeostasis. The primary mode of management is surgical treatment, relying on the accurate localisation of the pathological parathyroid gland. Precise identification is paramount to ensuring that the surgical intervention effectively targets and removes the diseased gland, alleviating the hyperfunctioning state. However, localising the gland becomes challenging, as discrepancies between the clinical manifestation of active parathyroid and radiological identification are common. Based on our current knowledge, to date, no comprehensive review has been conducted that considers all factors collectively. This comprehensive review delves into the factors contributing to false-negative 99mTc-Sestamibi scans. Our research involved an exhaustive search in the PubMed database for hyperparathyroidism, with the identified literature meticulously filtered and reviewed by the authors. The results highlighted various factors, including multiple parathyroid diseases, nodular goitre, mild disease, or the presence of an ectopic gland that causes discordance. Hence, a thorough consideration of these factors is crucial during the diagnostic workup of hyperparathyroidism. Employing intraoperative PTH assays can significantly contribute to a successful cure of the disease, thereby providing a more comprehensive approach to managing this prevalent endocrine disorder.

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Shams Ali Baig S Ali Baig, University of Birmingham College of Medical and Dental Sciences, Birmingham, B15 2TT, United Kingdom of Great Britain and Northern Ireland

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Kashish Malhotra K Malhotra, Department of Surgery, Dayanand Medical College and Hospital, Ludhiana, India

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Mukunth Kowsik M Kowsik, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland

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Josh Banerjee J Banerjee, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland

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Fazna Rahman F Rahman, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland

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Ashmethaa Ashokkumar A Ashokkumar, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland

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Caroline Gillett C Gillett, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland

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Punith Kempegowda P Kempegowda, University of Birmingham, Birmingham, B15 2TT, United Kingdom of Great Britain and Northern Ireland

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Objectives: To investigate the utility and effectiveness of a school outreach programme in areas of lower socioeconomic status to improve understanding of common endocrine topics and the medical profession.

Methods: Two secondary school outreach sessions were conducted in July 2022. Students were invited to attend lectures delivered by medical professionals and engage in poster-making sessions using the knowledge they had gained throughout the day. Participants completed anonymised pre- and post-session surveys. Outcomes were identified using Kirkpatrick’s training evaluation model. Self-reported perceptions and beliefs (Kirkpatrick’s Level 2a) were compared using chi-square tests. Thematic analysis of team-led poster presentations was performed.

Results: Of the 254 participants included, the response rates of pre- and post-session questionnaires were 75.6% and 56.2%, respectively. The outreach day increased students’ understanding of Obesity and Diabetes, PCOS, and Health Technology. The most well-received activities from the outreach day were voted to be the poster challenge (43.4%) and poster presentation (14.7%). Following the session, there was a trend towards an increased understanding of medical careers and interest in pursuing a medical career, although these did not reach statistical significance.

Conclusions: Outreach programmes could be a practical and effective approach to engaging prospective medical applicants from areas of lower socioeconomic status. Further studies are required to expand outreach programmes to investigate the efficacy of school engagement programmes.

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Weiwei Liang W Liang, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China

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Junxin Chen J Chen, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guang Zhou, China

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Hai Li H Li, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China

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Pengyuan Zhang P Zhang, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China

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Hongyu Guan H Guan, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China

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Yanbing Li Y Li, Department of Endocrinology and Diabetes Center, The First Affiliated Hospital of Sun Yat-sen University, Guanzhou, China

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Background: Collagen type VIII α 1 chain (COL8A1), a collagen type VIII protein, has been suggested to exert various functions in progression of multiple cancers. However, the effect of COL8A1 in papillary thyroid cancer (PTC) has not been elucidated.

Methods: The Cancer Genome Atlas (TCGA) databases were applied to investigate the COL8A1 expression and its clinical significance in PTC. The COL8A1 expression level was further validated using Gene Expression Omnibus (GEO) data and clinical paired PTC tissues. Additionally, Kaplan-Meier curve was used to analyze the prognosis. The cell migrative and invasive abilities were evaluated by wound healing assay and Transwell assay. CCK8 assays were used to evaluate proliferation of PTC cells. Western blotting was conducted to explore the potential mechanisms involved in the pro-tumor role of COL8A1. The correlation between immune cell infiltration and COL8A1 was analyzed using Tumor Immune Estimation Resource (TIMER) database and the single-sample GSEA (ssGSEA) method.

Results: We found that COL8A1 was upregulated in PTC (P<0.05). High COL8A1 expression level was significantly associated with advanced T stage (P<0.01), N stage (P<0.001) and poor prognosis (P=0.0142) in PTC. Furthermore, cell migration and invasion were significantly reduced following COL8A1 knockdown (P<0.001). Mechanistic studies demonstrated that the epithelial-to-mesenchymal transition (EMT) related proteins (FN1, MMP9, MMP7, ZEB2 and Twist1) and phosphorylation of AKT and ERK were obviously down-regulated after COL8A1 knockdown (P<0.01). Moreover, COL8A1 expression was correlated with immune cell infiltration.

Conclusion: Our study demonstrates that COL8A1 may function as an oncogene and a potential prognostic biomarker for PTC patients.

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Mohamed Hssaini Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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Sana Abourazzak Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Ihsane El Otmani Laboratory of Health Sciences and Technologies, Higher Institute of Health Sciences, Hassan First University of Settat, Morocco

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Mohamed Ahakoud Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Amina Ameli Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Laila Bouguenouch Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Hicham Bekkari Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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Background

Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.

Aims

The study aims to highlight the clinical spectrum, etiological diagnosis, and management of patients with DSD.

Subjects and methods

This is a retrospective study of all patients diagnosed with DSD under the age of 18 years, who were referred to the Pediatric Endocrinology Department and the Medical Genetics Laboratory at HASSAN II University Hospital of Fez between June 2018 and June 2023.

Results

Out of 57 patients, 54.4% (n = 31) were diagnosed with 46,XX DSD, the most common type, while 45.6% (n = 26) had 46,XY DSD. Patients with 46,XX DSD presented earlier than those with 46,XY DSD, at a median age of 0.08 years and 0.96 years, respectively. The most commonly reported complaint was atypical genitalia. At the first presentation, the sex of rearing was already assigned to 26 males and 27 females. All patients with 46,XX DSD were diagnosed with congenital adrenal hyperplasia (CAH) at a median age of diagnosis of 0.92 years. Of these, 11 patients were raised as males. Disorders of androgen action or synthesis were more common in XY patients (69.2%). The consanguinity rate was 46.5%, and there were 19 cases with a positive family history, with 10 siblings having died.

Conclusion

DSD are not rare in Morocco. Overall, CAH remains the most frequent DSD etiology. Molecular genetic analyses are needed to determine the accurate etiological distribution of DSD, especially in XY patients.

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Tal Almagor T Almagor, Pediatric Endocrine Unit, Haemek Medical Center, Afula, Israel

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Shlomo Almashanu S Almashanu, The national Newborn Screening program, Sheba Medical Center at Tel Hashomer, Tel Hashomer, Israel

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Ghadir Elias Assad G Assad, Pediatric Endocrinology, Clalit Health Services, Nazareth, Israel

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Osnat Admoni O Admoni, Pediatric Endocrinology, Clalit Health Services, Afula, Israel

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Hanna Ludar H Ludar, Pediatric Health Center, Clalit Health Services, Haifa, Israel

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Shira London S London, Pediatric Health Center, Clalit Health Services, Haifa, Israel

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Shoshana Rath S Rath, Pediatric Health Center, Clalit Health Services, Tiberias, Israel

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Alina German A German, Pediatric Endocrine Institute, Haemek Medical Center, Afula, Israel

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Naama Schwartz N Schwartz, School of Public Health, Carmel Medical Center, Haifa, Israel

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Yardena Tenenbauim Rakover Y Rakover, Pediatric Endocrinology, Clalit Health Services, Afula, Israel

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Objectives: The incidence of congenital hypothyroidism (CH) has increased worldwide over the last decades mainly due to the lowering of screening thresholds, resulting in an increased identification of newborns with transient CH. Several studies reported the prevalence and the predictive parameters of transient CH but reports on the long-term outcome are rare. This study aimed to assess the long-term course of neonates with transient CH.

Design: Neonates diagnosed with transient and permanent CH between the years 1998 to 2018 at the Pediatric Endocrine Institute of Ha'Emek Medical Center were enrolled in the study. Data were retrieved retrospectively from medical files.

Results: Included in the study were 76 newborns (45M,59%) with transient CH and 53 (25M,47%) with permanent CH. The major cause of transient CH was prematurity (29%) and subclinical hypothyroidism (30%). During retrospective follow-ups of up to 23 years, reinitiation of LT4 therapy was not required apart from four patients with underlying syndromic etiologies. Neurodevelopmental impairment occurred in 16% of children with transient CH compared with 29.4% in the permanent CH group.

Conclusions: Transient CH is frequent among preterm infants but is limited to infancy. SCH frequently presents as overt hypothyroidism at birth but in most cases the requirement for LT4 supplemental therapy is limited to the first years of life, suggesting that long-term follow-up of thyroid function tests may be unnecessary for non-syndromic children. The high rate of neurodevelopmental impairment in newborns with transient CH emphasizes the need for neurodevelopmental monitoring in these patients.

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