IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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In addition, a 13-item physician questionnaire was developed to assess physicians’ perspectives on CS symptoms and comorbidities. This physician questionnaire was conducted by HRA Pharma Rare Diseases at the 2019 European Congress of Endocrinology, in
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Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France
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Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France
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Introduction In the European Union, a disease is considered rare when it affects fewer than one person in 2000 ( 1 ). Awareness of rare diseases has increased in the European Union since 2009 when the Council of the European Union asked the
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North Lakes Clinical, Department of Nuclear Medicine, Medical Department I, Ruhr Center for Rare Diseases (CeSER), 20 Wheatley Avenue, Ilkley LS29 8PT, UK
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Several influences modulate biochemical responses to a weight-adjusted levothyroxine (l-T4) replacement dose. We conducted a secondary analysis of the relationship of l-T4 dose to TSH and free T3 (FT3), using a prospective observational study examining the interacting equilibria between thyroid parameters. We studied 353 patients on steady-state l-T4 replacement for autoimmune thyroiditis or after surgery for malignant or benign thyroid disease. Peripheral deiodinase activity was calculated as a measure of T4–T3 conversion efficiency. In euthyroid subjects, the median l-T4 dose was 1.3 μg/kg per day (interquartile range (IQR) 0.94,1.60). The dose was independently associated with gender, age, aetiology and deiodinase activity (all P<0.001). Comparable FT3 levels required higher l-T4 doses in the carcinoma group (n=143), even after adjusting for different TSH levels. Euthyroid athyreotic thyroid carcinoma patients (n=50) received 1.57 μg/kg per day l-T4 (IQR 1.40, 1.69), compared to 1.19 μg/kg per day (0.85,1.47) in autoimmune thyroiditis (P<0.01, n=76) and 1.08 μg/kg per day (0.82, 1.44) in patients operated on for benign disease (P< 0.01, n=80). Stratifying patients by deiodinase activity categories of <23, 23–29 and >29 nmol/s revealed an increasing FT3–FT4 dissociation; the poorest converters showed the lowest FT3 levels in spite of the highest dose and circulating FT4 (P<0.001). An l-T4-related FT3–TSH disjoint was also apparent; some patients with fully suppressed TSH failed to raise FT3 above the median level. These findings imply that thyroid hormone conversion efficiency is an important modulator of the biochemical response to l-T4; FT3 measurement may be an additional treatment target; and l-T4 dose escalation may have limited success to raise FT3 appropriately in some cases.
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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up to December 7, 2020, were included in this analysis. As previously described, all aspects of the Global HPP Registry are sponsored by Alexion, AstraZeneca Rare Disease (Boston, MA, USA), and the registry is monitored by a scientific advisory
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patients who participated in the study. References 1 Chanson P & Salenave S . Acromegaly . Orphanet Journal of Rare Diseases 2008 3 17 . ( https://doi.org/10.1186/1750-1172-3-17 ) 2 Colao A Grasso LFS Giustina A Melmed S Chanson
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the early recognition and treatment of the endocrine disorder. By definition, rare diseases affect only a small number of people and therefore cause specific problems arising from their rarity. The European Union considers a disease as rare when it
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
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EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
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EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
Sorbonne University, Paris, France
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Objective
Growth hormone (GH) and insulin-like growth factors (IGFs) are not mandatory for reproductive life, but data suggest their synergistic action with follicle-stimulating hormone throughout ovarian folliculogenesis. We aimed to evaluate the association of IGF-1 level on clinical pregnancy rate after ovarian stimulation, with or without intrauterine insemination, in women with GH deficiency (GHD) treated with GH replacement therapy (GHRT) at conception.
Design and methods
Data from 19 women with both GHD and hypogonadotropic hypogonadism referred to our reproductive medicine department were retrospectively collected. IGF-1 levels were assessed in a single laboratory, and values were expressed in s.d. from the mean.
Results
Amongst the seven patients receiving GHRT during ovarian stimulation, higher IGF-1 levels were significantly associated with clinical pregnancy (+0.4 s.d. vs–1.6 s.d., P = 0.03). Amongst the 24 pregnancies obtained by the 19 infertile patients, pregnancy loss was less frequent with the addition of GHRT than without (1 miscarriage out of 8 total pregnancies vs 4 miscarriages out of 16 total pregnancies).
Conclusions
This is the first study evaluating the association of IGF-1 level on clinical pregnancy rate in GH-treated women at conception. When taking care of female infertility due to hypogonadotropic hypogonadism, practitioners should enquire about the associated GHD and IGF-1 levels. To ensure higher clinical pregnancy chances, practitioners should aim for IGF-1 values at conception, ranging from 0 s.d. to +2 s.d., and, if necessary, could discuss initiation or increase GH treatment. Prospective studies should help strengthen our results.
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Glucagon-like peptide 1 receptor agonists (GLP-1RAs) have changed considerably the management of type 2 diabetes (T2D). However, recently published data from retrospective cohort studies suggest that chronic exposure to GLP-1RAs in T2D may increase the risk of papillary and medullary thyroid cancer. In this perspective, the role of the incretin system in thyroid carcinogenesis has been reviewed and critically commented on, aiming to understand if the time has arrived to be concerned about the risk. Although evidence suggested, speculative hypotheses should be verified, and further studies are urgently needed to clarify the issue.
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the past need decent care throughout their lifespan ( 2 ). The European Reference Networks for rare diseases were established and began operating in March 2017, covering large geographical parts of Europe and, by definition, collecting best expert
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Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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Turner syndrome (TS) is a condition with a missing X chromosome (45,X) or parts thereof or with a mosaic setup (45,X/46,XX or other variants). It is a rare disease. New international guidelines describe an appropriate setup for optimal clinical
