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I M.a.a. van Roessel I van Roessel, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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Je Gorter J Gorter, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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Boudewijn Bakker B Bakker, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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Mm van den Heuvel-Eibrink M van den Heuvel-Eibrink, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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M H Lequin M Lequin, Department of Radiology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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J van der Lugt J van der Lugt, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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L Meijer L Meijer, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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A.y.n. Schouten-van Meeteren A Schouten-van Meeteren, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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H M van Santen H van Santen, Department of Pediatric Neuro-oncology, Prinses Maxima Centrum voor Kinderoncologie, Utrecht, Netherlands

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Objective: Children with a supratentorial midline low grade glioma (LGG) may be at risk for impaired bone health due to hypothalamic-pituitary dysfunction, obesity, exposure to multiple treatment modalities, and/or decreased mobility. The presence of impaired bone health and/or its severity in this population has been understudied. We aimed to identify the prevalence and risk factors for bone problems in children with supratentorial midline LGG.

Design and Methods: A retrospective study was performed in children with supratentorial midline (suprasellar or thalamic) LGG between 1-1-2003 and 1-1-2022, visiting the Princess Máxima Center for Pediatric Oncology. Impaired bone health was defined as presence of vertebral fractures and/or very low bone mineral density (BMD).

Results: In total, 161 children were included, with a median age at tumor diagnosis of 4.7 years (range 0.1 – 17.9) and a median follow-up of 6.1 years (range 0.1 – 19.9). Five patients (3.1 %) had vertebral fractures. In 99 patients BMD was assessed either by Dual Energy X ray Absorptiometry (n=12) or Bone Health Index (n=95); 34 patients (34.3%) had a low BMD (≤ -2.0). Impaired visual capacity was associated with bone problems in multivariable analysis (OR 6.63, 95% CI 1.83 – 24.00, p = 0.004).

Conclusions: In this retrospective evaluation, decreased BMD was prevalent in 34.3% of children with supratentorial midline LGG. For the risk to develop bone problems visual capacity seems highly relevant. Surveillance of bone health must be an aspect for awareness in the care and follow-up of children with a supratentorial midline LGG.

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Dafydd Aled Rees Cardiff University, Cardiff, United Kingdom

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Deborah P Merke National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA

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Wiebke Arlt MRC LMS, London, United Kingdom

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Aude Brac De La Perriere Hospices Civils de Lyon - GHE - Endocrinologie, Bron, France

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Angelica Linden Hirschberg Karolinska Institute, Solna, Sweden

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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John Newell-Price The University of Sheffield, Sheffield, United Kingdom

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Alessandro Prete University of Birmingham, Birmingham, United Kingdom

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Nicole Reisch Endokrinologie, Nephrologie und weitere Sektionen - Medizinische Klinik und Poliklinik IV - Campus Innenstadt, München, Germany

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Nike M Stikkelbroeck Radboud University Nijmegen, Nijmegen, Netherlands

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Philippe A Touraine University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France

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Alex Lewis Neurocrine Biosciences Inc, London, United Kingdom

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John Porter Neurocrine Biosciences Inc, London, United Kingdom

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Helen Coope Neurocrine Biosciences Inc, London, United Kingdom

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Richard J Ross The University of Sheffield, Sheffield, United Kingdom

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Background

Prednisolone and prednisone are recommended treatment options for adults with congenital adrenal hyperplasia (CAH); however, there is no randomised comparison of prednis(ol)one with hydrocortisone.

Design

Six-month open-label randomised phase 3 study and interim analysis of a single-arm extension study was the design of the study.

Methods

The method of the study was hydrocortisone dose equivalent and 09:00-h 17-hydroxyprogesterone (17OHP) from 48 patients taking prednis(ol)one at baseline.

Results

At baseline, the median hydrocortisone dose equivalent was 30 mg/day and 17OHP was < 36 nmol/L (3× upper limit of normal) in 56% of patients. Patients were randomised to continue prednis(ol)one or switch to modified-release hydrocortisone capsule (MRHC) at the same hydrocortisone-equivalent dose. At 4 weeks, 94% on MRHC and 71% on prednis(ol)one had 17OHP < 36 nmol/L. At 18 months in the extension study of MRHC, the median MRHC dose was 20 mg/day and 82% had 17OHP < 36 nmol/L. The per cent of patients with 17OHP < 36 nmol/L on a hydrocortisone dose equivalent ≤ 25 mg/day was greater at 18 months in the extension study on MRHC than while on prednis(ol)one at baseline: 57% vs 27%, P = 0.04. In the randomised study, no patients had an adrenal crisis on MRHC and one on prednisolone. In the extension study (221 patient years), there were 12 adrenal crises in 5 patients (5.4/100 patient years).

Conclusion

MRHC reduces 17OHP at 09:00 h compared to prednis(ol)one and the dose of MRHC can be down-titrated over time in the majority of patients.

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Theodoros Karampitsakos T Karampitsakos, General University Hospital Attikon, Athens, Greece

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Fotini Kanouta F Kanouta, Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Athens, Greece

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Christos Chatzakis C Chatzakis, Aristotle University of Thessaloniki Faculty of Health Sciences, Thessaloniki, Greece

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Vassilios Bakoulas V Bakoulas, Athens, Greece

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Alexandros Gryparis A Gryparis, athens, Greece

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Petros Drakakis P Drakakis, Athens, Greece

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Djuro Macut D Macut, Clinic for Endocrinology, Diabetes and Metabolic Diseases, Belgrade, Belgrade, 11000, Serbia

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George Mastorakos G Mastorakos, National and Kapodistrian University of Athens School of Medicine, Athens, Greece

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Introduction: To investigate whether synthetic (s) glucocorticoids (GCs) administrated between 24th and 34th gestational weeks in pre-term labor, might precipitate labor, studies upon sGCs administration were reviewed. Physiology of endogenous glucocorticoids-related increase in fetal-maternal circulation and its association with labor, followed by a scoping review with studies on exogenous sGCs administrated for fetal lung maturation and the timing of labor were included.

Material and methods: Methodology of systematic reviews was followed. MEDLINE, Cochrane library and Google Scholar databases were searched till October 2023, for original studies investigating administration of sGCs in pregnancies risking pre-term labor. Duplicates were removed and 1867 abstracts were excluded as irrelevant. Six controlled and four non-controlled studies were included. The index group consisted of 6001 subjects and 7691 controls in the former, while in the latter the index group consisted of 2069 subjects.

Results: In three out of the six controlled studies, gestational age at labor was significantly lower in sGCs-treated women than in controls, while in three studies gestational age at labor was lower in sGCs-treated women than in controls with a trend of statistical significance . In one study, gestational age at labor was significantly lower in controls than in sGCs-treated women. In the non-controlled studies, the majority of women delivered less than one week from the day of sGCs administration.

Conclusions: In this scoping review, studies lack homogeneity. However, in the controlled studies, a pattern of earlier labor emerges among sGCs-treated pregnant women. The use of multiple courses of ante-natal sGCs appears to be associated to precipitated labor. Their use should be carefully weighed. Carefully designed trials should examine this still open scientific query.

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Alessandro Barbato A Barbato, Auxo-endocrinology unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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

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

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

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

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

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

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

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Claudia Bianchini C Bianchini, Neuroscience Department, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei D Mei, Neuroscience Department, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini E Parrini, Neuroscience Department, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano T Pisano, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy

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

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Renzo Guerrini R Guerrini, Neuroscience Department, Meyer Children’s Hospital IRCCS, Florence, Italy

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Angela Peron A Peron, Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Stefano Stagi S Stagi, Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, 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 pathogenetic 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 associated 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 suggests that SCO1 is a candidate gene for genetic hypopituitarism and DEE.

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Clara Lundetoft Clausen Center of Research & Disruption of Infectious Diseases, Department of Infectious Diseases, Copenhagen University Hospital - Amager and Hvidovre, Hvidovre, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Niels Erik Skakkebæk Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Hanne Frederiksen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Thomas Benfield Center of Research & Disruption of Infectious Diseases, Department of Infectious Diseases, Copenhagen University Hospital - Amager and Hvidovre, Hvidovre, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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In the context of severe coronavirus disease 2019 (COVID-19) illness, we examined endogenous glucocorticoid concentrations, steroidogenic enzyme activity, and their correlation with inflammation and patient outcomes. This observational study included 125 hospitalized COVID-19 patients and 101 healthy individuals as a reference group. We utilized LC-MS to assess serum concentrations of 11-deoxycortisol, cortisol, and cortisone, as well as activities of steroidogenic enzymes (11β-hydroxylase and 11β-hydroxysteroid-dehydrogenase type 1). Cox proportional hazards regression analysis and competing risk analysis were employed to analyze associations between glucocorticoid concentrations and outcomes, adjusting for relevant factors. In patients with COVID-19, cortisol concentrations were higher and cortisone concentrations were lower compared to the reference group, while 11-deoxycortisol concentrations were similar. Steroidogenic enzyme activity favored cortisol production. Correlations between glucocorticoid concentrations and inflammatory markers were low. A doubling in concentrations cortisol, was associated with increased 90-day mortality and mechanical ventilation (HR: 2.40 95% CI: (1.03–5.59) , P = 0.042 and HR: 3.83 (1.19–12.31), P = 0.024). A doubling in concentrations of 11-deoxycortisol was also associated to mortality (HR: 1.32 (1.05–1.67), P = 0.018), whereas concentrations of cortisone were associated with mechanical ventilation (HR: 5.09 (1.49–17.40), P = 0.009). In conclusion, serum concentrations of glucocorticoid metabolites were altered in patients hospitalized with severe COVID-19, and steroidogenic enzyme activity resulting in the conversion of cortisone to biologically active cortisol was preserved, thus not favoring critical-illness-related corticosteroid insufficiency at the enzymatic level. Glucocorticoid release did not counterbalance the hyperinflammatory state in patients with severe COVID-19. High serum concentrations of 11-deoxycortisol and cortisol were associated with 90-day mortality, and high serum concentrations of cortisol and cortisone were associated with mechanical ventilation.

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Budoor Alemadi B Alemadi, Endocrinology, Dubai Health, Dubai, United Arab Emirates

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Fauzia Rashid F Rashid, Endocrinology , Dubai Health, Dubai, United Arab Emirates

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Ali S Alzahrani A Alzahrani, Department of Medicine, King Faisal Specialist Hospital and Research Centre, 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.

Open access
Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky Universität, Oldenburg, Germany

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Maria Eveslage Institute of Biostatistics and Clinical Research, University of Münster, Münster, Germany

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Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

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Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany

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Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany

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Objective

It is well known that both genetic background and lifestyle influence the development of ‘general’ obesity. However, the role of parental body mass index (BMI) on the development of obesity in long-term survivors of childhood-onset craniopharyngioma (CP) is not well understood. This study analyzed the correlation of patients’ BMI at diagnosis and last visit and parental BMI at CP diagnosis and further explored potential risk factors for obesity in CP patients.

Design

This is a registry-based retrospective cohort study.

Methods

In total,291 CP patients and their parents recruited in the German KRANIOPHARYNGEOM studies were included. Correlations between patient’s BMI SDS at CP diagnosis and last visit and parental BMI at CP diagnosis were analyzed. The associations between hypothalamic damage, maternal/paternal BMI and CP patients’ obesity at last visit were analyzed by multivariable logistic regression.

Results

At follow-up, 52% of CP patients developed obesity (BMI > 3SDS). Patient’s BMI SDS at last visit was moderately correlated with BMI-SDS at CP diagnosis (r = 0.48, 95% CI: 0.38–0.58, P < 0.001), and also with maternal BMI at diagnosis (r = 0.28, 95% CI: 0.17–0.38, P < 0.001) and paternal BMI at diagnosis (r = 0.3, 95% CI: 0.19–0.41, P < 0.001). However, the contributing role of parental BMI to the pathogenesis of obesity was small compared to the impact of hypothalamic damage.

Conclusion

We conclude that besides hypothalamic damage, parental disposition for obesity is associated with the development of obesity in patients after CP. Our results indicate that also the family situation could have an influence on the development of obesity after CP and might be a therapeutic target.

Significance statement

Survivors of childhood-onset craniopharyngioma are at risk of developing morbid obesity. So far, patients with posterior hypothalamic involvement and lesion were identified as a high risk group. With this study, the influence of parental body mass index on the risk of obesity was investigated. Patient’s body-mass-index at last visit was correlated with maternal and paternal body mass index at diagnosis. With increasing maternal or paternal body mass index, the likelihood of obesity in individuals with CP increased. Nevertheless, the parents’ weight had only a small effect on the development of patients’ obesity compared to hypothalamic damage.

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Hana Vítková H Vítková, General University Hospital in Prague, Prague, 12000, Czech Republic

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Kateřina Anderlová K Anderlová, Department of Gynaecology, Obstetrics and Neonatology, First Faculty of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Jan Krátký J Krátký, Third Department of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Radovan Bílek R Bílek, Institute of Endocrinology, Praha, Czech Republic

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Drahomíra Springer D Springer, Institute of Clinical Biochemistry and Laboratory Medicine, General University Hospital in Prague, Prague, Czech Republic

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Felix Votava F Votava, Department of Children and Adolescents, University Hospital Kralovske Vinohrady, Praha, Czech Republic

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Tomáš Brutvan T Brutvan, 3rd Department of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Adéla Krausová A Krausová, 3rd Department of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Kristýna Žabková K Žabková, 3rd Department of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Eliška Potluková E Potluková, University Center of Internal Medicine, Cantonal Hospital Basel-Landschaft Department of Internal Medicine, Basel, Switzerland

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Jan Jiskra J Jiskra, 3rd Department of Medicine, General University Hospital in Prague, Prague, Czech Republic

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Introduction: Maternal urinary iodine concentration (UIC) and blood neonatal thyroid stimulating hormone (TSH) concentration reflect iodine status in pregnancy. As dietary measures in gestational diabetes mellitus (GDM) could affect iodine intake, our study aimed to investigate iodine supply in women with GDM compared to healthy pregnant women and to evaluate its relationship to thyroid function.

Methods: UIC and serum TSH, free thyroxine (FT4) and autoantibodies against thyroid peroxidase (TPOAb) were analysed in 195 women with GDM and 88 healthy pregnant women in the 2nd trimester. Subsequently, neonatal TSH concentrations measured 72 hours after delivery in a subgroup of 154 newborns (115 of mothers with GDM and 39 controls) from the national register were analysed.

Results: Optimal iodine intake was found only in nine women with GDM (4.6%) and 33 healthy pregnant women (37.5%) (P<0.001). Most pregnant women with GDM (88.7%) as compared to one half of controls (50%) had iodine deficiency (P<0.001). Also, hypothyroxinaemia was more prevalent in GDM compared to controls (12.3% vs 3.4%, P = 0.032). Consistently, neonatal TSH >5.0 mIU/L indicating iodine deficiency was found in 6 (5.2%) newborns of women with GDM as compared to none in controls. In the multiple logistic and linear regression models in women with GDM, hypothyroxinaemia was associated with preterm births, and a negative association of serum FT4 and HbA1c was found.

Conclusion: Iodine deficiency in pregnancy was more prevalent among women with GDM compared to healthy pregnant controls. Hypothyroxinaemia was associated with preterm births in women with GDM.

Open access
Rohit Barnabas R Barnabas, Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, 400012, India

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Swati Jadhav S Jadhav, Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India

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Anurag Ranjan Lila A Lila, Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India

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Sirisha Kusuma Boddu S Boddu, Endocrinology, Rainbow Children's Hospital Banjara Hills, Hyderabad, India

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Saba Samad Memon S Memon, Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India

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Sneha Arya S Arya, Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India

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Samiksha Chandrashekhar Hegishte S Hegishte, Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India

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Manjiri Karlekar M Karlekar, Department of Endocrinology, KEM Hospital and Seth G S Medical College, Mumbai, India

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Virendra A Patil V Patil, Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, 400012, India

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Vijaya Sarathi V Sarathi, Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India

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Nalini S Shah N Shah, Mumbai, 400012, India

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Tushar Bandgar T Bandgar, Endocrinology , Seth Gordhandas Sunderdas Medical College, Mumbai, India

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Background: The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) inactivating variants is limited to case series.

Methods: We aim to describe our patients and perform systematic review of the patients with LHCGR inactivating variants in the literature. Detailed phenotype and genotype data of 3 patients from our centre and 85 (46,XY: 67; 46,XX: 18) patients from 59 families with LHCGR-inactivating variants from literature were described.

Results: Three 46,XY patients(age 6-18 years) from our centre, with two reared as females, had two novel variants in LHCGR. Systematic review (including our patients) revealed 72 variants in 88 patients. 46,XY patients (n=70, 56 raised as females) presented with pubertal delay (n=41) or atypical genitalia(n=17). Sinnecker score ≥3 (suggesting antenatal hCG inaction) was seen in 80% (56/70), and hCG-stimulated testosterone was low (<1.1 ng/ml) in 77.4% (24/31), whereas puberty/postpubertal age, high LH (97.6%, 41/42) and low (<1.0 ng/ml) basal testosterone (94.9%, 37/39) was observed in most. FSH was elevated in 21/51 of these patients. Variants with <10% receptor function were exclusively seen in cohorts with Sinnecker 4/5 (10/15 vs. 0/5, p=0.033). 46,XX patients (n=18) presented with oligo/amenorrhea and/or anovulatory infertility and had polycystic ovaries (7/9) with median LH of 10 IU/L (1.2-38).

Conclusion: In summary, this study comprehensively characterizes LHCGR variants, revealing genotype-phenotype correlations and informing clinical management of LCH. In 46,XY LCH patients, pubertal LH inaction is uniform with variable severity of antenatal hCG inaction. Few mutant LHCGR have differential action for LH and hCG.

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Lei Gao Department of Geriatrics, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Wenxia Cui Department of Geriatrics, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Dinghuang Mu Department of Geriatrics, Nanjing Drum Tower Hospital Clinical College of Nanjing University of Chinese Medicine, Nanjing, China

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Shaoping Li Department of Health Management Center, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Nan Li Department of Geriatrics, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Weihong Zhou Department of Health Management Center, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Yun Hu Department of Geriatrics, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China

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Objective

To create a nomogram-based model to estimate the Chinese population's 5-year risk of metabolic dysfunction-associated steatotic liver disease (MASLD).

Methods

We randomly divided 7582 participants into two groups in a 7:3 ratio: one group was assigned to work with the training set, which consisted of 5307 cases, and the other group was assigned to validate the model using 2275 cases. The least absolute shrinkage and selection operator model was employed to ascertain the variables with the highest correlation among all potential variables. A logistic model was constructed by incorporating these selected variables, which were subsequently visualized using a nomogram. The discriminatory ability, calibration, and clinical utility of the model were assessed using the receiver operating characteristic (ROC) curve, calibration curve, and decision curve analysis (DCA).

Results

During the 5-year follow-up, 1034 (13.64%) total participants were newly diagnosed with MASLD. Using eight variables (gender, body mass index, waist, hemoglobin, alanine aminotransferase, uric acid, triglycerides, and high-density lipoprotein), we built a 5-year MASLD risk prediction model. The nomogram showed an area under the ROC of 0.795 (95% CI: 0.779–0.811) in the training set and 0.785 (95% CI: 0.760–0.810) in the validation set. The calibration curves revealed a 5-year period of agreement between the observed and predicted MASLD risks. DCA curves illustrated the practicality of this nomogram over threshold probability profiles ranging from 5% to 50%.

Conclusion

We created and tested a nomogram to forecast the risk of MASLD prevalence over the next 5 years.

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