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1. Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Author

Righi, Beatrice, Ali, Salma R., Bryce, Jillian, Tomlinson, Jeremy W., Bonfig, Walter, Baronio, Federico, Costa, Eduardo C., Guaragna-Filho, Guilherme, T’Sjoen, Guy, Cools, Martine, Markosyan, Renata, Bachega, Tania A. S. S., Miranda, Mirela C., Iotova, Violeta, Falhammar, Henrik, Ceccato, Filippo, Stancampiano, Marianna R., Russo, Gianni, Daniel, Eleni, Auchus, Richard J., Ross, Richard J., and Ahmed, S. Faisal

Published
2023
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2. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Author

Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, and Flück, Christa E.

Published
2024
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3. Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Author

Tseretopoulou, Xanthippi, Ali, Salma R, Bryce, Jillian, Amin, Nadia, Atapattu, Navoda, Bachega, Tania A S S, Baronio, Federico, Ortolano, Rita, Birkebaek, Niels H, Bonfig, Walter, Cools, Martine, Davies, Justin H, Thomas, Tessy, Vries, Liat de, Elsedfy, Heba, Amr, Nermine H, Flueck, Christa E, Globa, Evgenia, Guran, Tulay, and Yavas-Abali, Zehra

Subjects
ADRENOGENITAL syndrome, ADRENAL insufficiency, ARTIFICIAL intelligence, PHENOTYPES, ACQUISITION of data
Abstract

Background It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events. Aim Study temporal trends of AI related AE in the I-CAH Registry. Methods In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019. Results In 2022, a total of 513 children from 38 centers in 21 countries with a median of 8 children (range 1-58) per center had 2470 visits evaluated over a 3-year period (2019-2022). The median SDE per patient year in 2022 was 0 (0-2.5) compared to 0.3 (0-6) in 2019 (P =.01). Despite adjustment for age, CAH phenotype and duration of study period, a difference in SDE rate was still apparent between the 2 cohorts. Of the 38 centers in the 2022 cohort, 21 had also participated in 2019 and a reduction in SDE rate was noted in 13 (62%), an increase was noted in 3 (14%), and in 5 (24%) the rate remained the same. Of the 474 SDEs reported in the 2022 cohort, 103 (22%) led to hospitalization compared to 299 of 1099 SDEs (27%) in the 2019 cohort (P =.02). Conclusion The I-CAH Registry can be used for targeted monitoring of important clinical benchmarks in CAH. However, changes in reported benchmarks need careful interpretation and longer-term monitoring. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Comparison between Liquid and Tablet Formulations in the Treatment of Congenital Hypothyroidism up to 3 Years of Age: The First Italian Study.

Author

Ortolano, Rita, Cantarelli, Erika, Baronio, Federico, Assirelli, Valentina, Candela, Egidio, Mastrangelo, Carla, Vissani, Sofia, Alqaisi, Randa S., Lanari, Marcello, and Cassio, Alessandra

Subjects
HUMAN beings, KRUSKAL-Wallis Test, FISHER exact test, TREATMENT effectiveness, RETROSPECTIVE studies, DESCRIPTIVE statistics, CHI-squared test, DRUG tablets, LONGITUDINAL method, DOSAGE forms of drugs, MEDICAL records, ACQUISITION of data, GENETIC techniques, SUSPENSIONS (Chemistry), COMPARATIVE studies, CONGENITAL hypothyroidism
Abstract

Background/Objectives: Levothyroxine (L-T4) is available for use in congenital hypothyroidism (CH) in three formulations: tablets, drops, and oral solution. This study aims to compare the efficacy and safety of all three L-T4 formulations. Methods: We enrolled 63 children born between January 2019 and April 2023 in the Emilia-Romagna Region (Italy) and diagnosed with CH by newborn screening. They were divided according to the L-T4 formulation used: drops (Group D), oral solution (Group S), and tablets (Group T). Clinical and laboratory data were collected up to 3 years after the start of replacement therapy. Results: Serum-free thyroxine (sFT4) and thyroid stimulating hormone (sTSH) normalization occurred within the first month of treatment in most patients of all groups. No negative effects on growth and cognitive development were observed. At 7–15 days we found higher median sTSH levels (p = 0.031) and a greater percentage of patients with sTSH > 5 µU/mL (p = 0.011) in Group S than in Group T, but comparable sFT4 levels. At 12 months, a greater percentage of patients of Group D showed sFT4 values below the normal range than Group S (p = 0.011) and Group T (p = 0.038); Conclusions: Overall, our study reported an equal efficacy of the L-T4 oral solution compared to drops and tablets in CH treatment. A larger series of patients and a long-term follow-up are needed. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Author

Baroncelli, Giampiero I., Comberiati, Pasquale, Aversa, Tommaso, Baronio, Federico, Cassio, Alessandra, Chiarito, Mariangela, di Coscio, Mirna Cosci o., De Sanctis, Luisa, Di Iorgi, Natascia, Faienza, Maria Felicia, Fintini, Danilo, Franceschi, Roberto, Kalapurackal, Mila, Longhi, Silvia, Mariani, Michela, Pitea, Marco, Secco, Andrea, Tessaris, Daniele, Vierucci, Francesco, and Wasniewska, Malgorzata

Subjects
PEDIATRIC endocrinology, RICKETS, BONE metabolism, VITAMIN D metabolism, VITAMIN D deficiency, KNEE, FAMILIAL spastic paraplegia
Abstract

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The most common signs of rickets are swelling of the wrists, knees or ankles, bowing of the legs (knock-knees, outward bowing, or both) and inability to walk. However, clinical features alone cannot differentiate between the various forms of rickets. Rickets includes a heterogeneous group of acquired and inherited diseases. Nutritional rickets is due to a deficiency of vitamin D, dietary calcium or phosphate. Mutations in genes responsible for vitamin D metabolism or function, the production or breakdown of fibroblast growth factor 23, renal phosphate regulation, or bone mineralization can lead to the hereditary form of rickets. This position paper reviews the relevant literature and presents the expertise of the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP). The aim of this document is to provide practical guidance to specialists and healthcare professionals on the main criteria for diagnosis, treatment, and management of patients with rickets. The various forms of rickets are discussed, and detailed references for the discussion of each form are provided. Algorithms to guide the diagnostic approach and recommendations to manage patients with rare forms of hereditary rickets are proposed. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Author

Kouri, Chrysanthi, primary, Sommer, Grit, additional, Martinez de Lapiscina, Idoia, additional, Elzenaty, Rawda Naamneh, additional, Tack, Lloyd J.W., additional, Cools, Martine, additional, Ahmed, S. Faisal, additional, Flück, Christa E., additional, Abali, Saygin, additional, Abali, Zehra Yavas, additional, Akin, Leyla, additional, Almaraz, Maricruz, additional, Audí, Laura, additional, Aydin, Murat, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Bryce, Jillian, additional, Busiah, Kanetee, additional, Caimari, Maria, additional, Camats-Tarruella, Núria, additional, Campos-Martorell, Ariadna, additional, Castaño, Luis, additional, Casteràs, Anna, additional, Çetinkaya, Semra, additional, Chan, Yee-Ming, additional, Claahsen-van der Grinten, Hedi L., additional, Costa, Ines, additional, Darendeliler, Fatma Feyza, additional, Davies, Justin H., additional, Esteva, Isabel, additional, Fabbri-Scallet, Helena, additional, Finlayson, Courtney A., additional, Garcia, Emilio, additional, Garcia Cuartero, Beatriz, additional, German, Alina, additional, Globa, Evgenia, additional, Guerra-Junior, Gil, additional, Guerrero, Julio, additional, Guran, Tulay, additional, Hannema, Sabine E., additional, Hiort, Olaf, additional, Hirsch, Josephine, additional, Hughes, Leuan, additional, Janner, Marco, additional, Kolesinska, Zofia, additional, Lachlan, Katherine, additional, Lauber-Biason, Anna, additional, Malikova, Jana Krenek, additional, l'Allemand, Dagmar, additional, Lenhnerr-Taube, Nina, additional, Lucas-Herald, Angela, additional, Mammadova, Jamala, additional, MсElreavey, Kenneth, additional, Mericq, Veronica, additional, Mönig, Isabel, additional, Moreno, Francisca, additional, Mührer, Julia, additional, Niedziela, Marek, additional, Nordenstrom, Anna, additional, Orman, Burçe, additional, Poyrazoglu, Sukran, additional, Rial, Jose M., additional, Rutter, Meilan M., additional, Rodríguez, Amaia, additional, Schafer-Kalkhoff, Tara, additional, Sauter, Kay-Sara, additional, Seneviratne, Sumudu Nimali, additional, Sredkova-Ruskova, Maria, additional, Tadokoro-Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Tomé, Mónica, additional, Vela, Amaia, additional, Wasniewska, Malgorzata, additional, Zangen, David, additional, and Zelinska, Nataliya, additional

Published
2024
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10. Hormonal control during infancy and testicular adrenal rest tumor development in CAH males - a retrospective multi-center cohort study

Author

Schröder, Mariska A M, primary, Neacşu, Mihaela, additional, Adriaansen, Bas P H, additional, Sweep, Fred C G J, additional, Ahmed, S Faisal, additional, Ali, Salma R, additional, Bachega, Tânia A S S, additional, Baronio, Federico, additional, Birkebæk, Niels Holtum, additional, de Bruin, Christiaan, additional, Bonfig, Walter, additional, Bryce, Jillian, additional, Clemente, Maria, additional, Cools, Martine, additional, Elsedfy, Heba, additional, Globa, Evgenia, additional, Guran, Tulay, additional, Güven, Ayla, additional, Amr, Nermine Hussein, additional, Janus, Dominika, additional, Taube, Nina Lenherr, additional, Markosyan, Renata, additional, Miranda, Mirela, additional, Poyrazoğlu, Şükran, additional, Rees, Aled, additional, Salerno, Mariacarolina, additional, Stancampiano, Marianna Rita, additional, Vieites, Ana, additional, de Vries, Liat, additional, Yavas Abali, Zehra, additional, Span, Paul N, additional, and Claahsen-van der Grinten, Hedi L, additional

Published
2023
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11. Predictors of surgical complications in boys with hypospadias: data from an internationa registry

Author

Scougall, Kathryn, primary, Bryce, Jillian, additional, Baronio, Federico, additional, Boal, Rachel L, additional, Castera, Jose Roberto, additional, Castro, Sebastián, additional, Cheetham, Tim, additional, Costa, Eduardo Corrêa, additional, Darendeliler, Feyza, additional, Davies, Justin H, additional, Dirlewanger, Mirjam, additional, Gazdagh, Gabriella, additional, Globa, Evgenia, additional, Guerra-Junior, Gil, additional, Guran, Tulay, additional, Herrmann, Gloria, additional, Holterhus, Paul-Martin, additional, Akgül, Ahsen Karagözlü, additional, Markosyan, Renata, additional, McElreavey, Kenneth, additional, Miranda, Marcio Lopes, additional, Nordenstrom, Anna, additional, O’Toole, Stuart, additional, Poyrazoglu, Sukran, additional, Russo, Gianni, additional, Schwitzgebel, Valerie, additional, Stancampiano, Marianna, additional, Steigert, Michael, additional, Ahmed, S Faisal, additional, and Lucas-Herald, Angela K, additional

Published
2023
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13. Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center

Author

Ortolano, Rita, primary, Cassio, Alessandra, additional, Alqaisi, Randa S., additional, Candela, Egidio, additional, Di Natale, Valeria, additional, Assirelli, Valentina, additional, Bernardini, Luca, additional, Bortolamedi, Elisa, additional, Cantarelli, Erika, additional, Corcioni, Beniamino, additional, Renzulli, Matteo, additional, Balsamo, Antonio, additional, and Baronio, Federico, additional

Published
2023
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14. Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia

Author

Johannsen, Trine Holm, primary, Albrethsen, Jakob, additional, Neocleous, Vassos, additional, Baronio, Federico, additional, Cools, Martine, additional, Aksglaede, Lise, additional, Jørgensen, Niels, additional, Christiansen, Peter, additional, Toumba, Meropi, additional, Fanis, Pavlos, additional, Ljubicic, Marie Lindhardt, additional, and Juul, Anders, additional

Published
2023
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15. The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

Author

Schroder, Mariska, primary, Neacşu, Mihaela, additional, Sweep, Fred, additional, Span, Paul N, additional, Adriaansen, Bas, additional, van, Herwaarden Antonius, additional, Bryce, Jillian, additional, Ahmed, Faisal, additional, Ali, Salma, additional, Aparecida, Sartori Sanchez Bachega Tania, additional, Baronio, Federico, additional, Holtum, Birkebaek Niels, additional, Bonfig, Walter, additional, Clemente, Maria, additional, Cools, Martine, additional, de, Bruin Christiaan, additional, de, Vries Liat, additional, Elsedfy, Heba, additional, Globa, Evgenia, additional, Guran, Tulay, additional, Guven, Ayla, additional, Amr, Nermine Hussein, additional, Januś, Dominika, additional, Konrad, Daniel, additional, Markosyan, Renata, additional, Miranda, Mirela, additional, Poyrazoğlu, Şukran, additional, Rees, Aled, additional, Salerno, Mariacarolina, additional, Stancampiano, Marianna Rita, additional, Vieitis, Ana, additional, Abali, Zehra Yavas, additional, and -, van der Grinten Hedi Claahsen, additional

Published
2023
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16. Adrenal Tumors

Author

Pession, Andrea, Baronio, Federico, Togni, Marco, Prete, Arcangelo, Lima, Mario, editor, and Manzoni, Gianantonio, editor

Published
2015
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18. Hyperthyroidism

Author

Radetti, Giorgio, Baronio, Federico, Bona, Gianni, editor, De Luca, Filippo, editor, and Monzani, Alice, editor

Published
2015
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19. Premature Pubarche: Time to Revise the Diagnostic Approach?

Author

Baronio, Federico, primary, Marzatico, Alice, additional, De Iasio, Rosaria, additional, Ortolano, Rita, additional, Fanolla, Antonio, additional, Radetti, Giorgio, additional, Balsamo, Antonio, additional, Pession, Andrea, additional, and Cassio, Alessandra, additional

Published
2023
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21. Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Author

Candela, Egidio, primary, Zagariello, Michele, additional, Di Natale, Valeria, additional, Ortolano, Rita, additional, Righetti, Francesca, additional, Assirelli, Valentina, additional, Biasucci, Giacomo, additional, Cassio, Alessandra, additional, Pession, Andrea, additional, and Baronio, Federico, additional

Published
2023
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23. X-linked hypophosphatemic rickets: cases series and literature review with a focus on neurosurgical management

Author

Baronio, Federico, Aliberti, Ferdinando, Carfagnini, Filomena, Di Gennaro, Giovanni Luigi, Pasquali, Daniela, Santoro, Rossella, Toro, Giuseppe, Zucchelli, Mino, Grandone, Anna, Baronio, Federico, Aliberti, Ferdinando, Carfagnini, Filomena, Di Gennaro, Giovanni Luigi, Pasquali, Daniela, Santoro, Rossella, Toro, Giuseppe, Zucchelli, Mino, and Grandone, Anna

Abstract

X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease caused by mutations in the Phosphate-Regulating Endopeptidase X-Linked (PHEX) gene. Due to its rarity and the wide range of clinical manifestations, management of the disease can be challenging due to several associated clinical implications that may arise during follow-up. The neurological complications associated with XLH are the most severe and often less known, which lead to important comorbidities. With the aim of summarizing the available knowledge on neurosurgical intervention in patients with XLH, we present four emblematic cases with disorders requiring neurosurgical evaluation. Relevant diagnostic delay was seen in two of these cases, with another case demonstrating that complications requiring neurosurgery may be present even in patients with few symptoms. The last case stresses the need for care of adult patients who can present with undiagnosed comorbidities. We also carried out a narrative review on neurosurgical interventions in patients with XLH. Through case reports and a review of the literature, focus is placed on the role of the neurosurgeon in the management of patients with XLH. In fact, neurosurgical intervention can often provide stable outcomes for craniosynostosis and clinical improvement for symptoms related to spinal stenosis. Thus, the neurosurgeon can aid in optimizing management of patients with XLH and should be a member of both adult and pediatric multidisciplinary teams. Lastly, additional studies are needed to determine if the early use of burosumab in infants can help to avoid complications in the long term.

Published
2023

24. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

Author

Schröder, Mariska A M; https://orcid.org/0000-0003-2139-9076, Neacşu, Mihaela, Adriaansen, Bas P H; https://orcid.org/0000-0003-1439-236X, Sweep, Fred C G J, Ahmed, S Faisal, Ali, Salma R; https://orcid.org/0000-0003-2178-269X, Bachega, Tânia A S S, Baronio, Federico, Birkebæk, Niels Holtum, de Bruin, Christiaan, Bonfig, Walter, Bryce, Jillian, Clemente, Maria, Cools, Martine; https://orcid.org/0000-0002-9552-4899, Elsedfy, Heba, Globa, Evgenia, Guran, Tulay; https://orcid.org/0000-0003-2658-6866, Güven, Ayla, Amr, Nermine Hussein, Janus, Dominika, Lenherr-Taube, Nina; https://orcid.org/0000-0001-8918-3963, Markosyan, Renata, Miranda, Mirela, Poyrazoğlu, Şükran, Rees, Aled, Salerno, Mariacarolina; https://orcid.org/0000-0003-1310-3300, Stancampiano, Marianna Rita, Vieites, Ana, de Vries, Liat, Yavas Abali, Zehra, et al, Schröder, Mariska A M; https://orcid.org/0000-0003-2139-9076, Neacşu, Mihaela, Adriaansen, Bas P H; https://orcid.org/0000-0003-1439-236X, Sweep, Fred C G J, Ahmed, S Faisal, Ali, Salma R; https://orcid.org/0000-0003-2178-269X, Bachega, Tânia A S S, Baronio, Federico, Birkebæk, Niels Holtum, de Bruin, Christiaan, Bonfig, Walter, Bryce, Jillian, Clemente, Maria, Cools, Martine; https://orcid.org/0000-0002-9552-4899, Elsedfy, Heba, Globa, Evgenia, Guran, Tulay; https://orcid.org/0000-0003-2658-6866, Güven, Ayla, Amr, Nermine Hussein, Janus, Dominika, Lenherr-Taube, Nina; https://orcid.org/0000-0001-8918-3963, Markosyan, Renata, Miranda, Mirela, Poyrazoğlu, Şükran, Rees, Aled, Salerno, Mariacarolina; https://orcid.org/0000-0003-1310-3300, Stancampiano, Marianna Rita, Vieites, Ana, de Vries, Liat, Yavas Abali, Zehra, and et al

Abstract

IMPORTANCE Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. OBJECTIVE This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. DESIGN AND PARTICIPANTS This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. RESULTS TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. CONCLUSIONS AND RELEVANCE A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.

Published
2023

25. Reduced serum concentrations of biomarkers reflecting leydig and sertoli cell function in male patients with congenital adrenal hyperplasia

Author

Johannsen, Trine Holm, Albrethsen, Jakob, Neocleous, Vassos, Baronio, Federico, Cools, Martine, Aksglaede, Lise, Jørgensen, Niels, Christiansen, Peter, Toumba, Meropi, Fanis, Pavlos, Ljubicic, Marie Lindhardt, Juul, Anders, Johannsen, Trine Holm, Albrethsen, Jakob, Neocleous, Vassos, Baronio, Federico, Cools, Martine, Aksglaede, Lise, Jørgensen, Niels, Christiansen, Peter, Toumba, Meropi, Fanis, Pavlos, Ljubicic, Marie Lindhardt, and Juul, Anders

Abstract

Congenital adrenal hyperplasia (CAH) is a recessive condition that affects the adrenalglands. Despite life-long replacement therapy with glucocorticoids and mineralocorticoids,adult patients with CAH often experience impaired gonadal function. In pubertal boys andin men with CAH, circulating testosterone is produced by the adrenal glands as well as thetesticular, steroidogenic cells. In this European two-center study, we evaluated the functionof Leydig and Sertoli cells in 61 boys and men with CAH, primarily due to 21-hydroxylasedeficiency. Despite conventional hormone replacement therapy, our results indicated asignificant reduction in serum concentrations of both Leydig cell-derived hormones (i.e.insulin-like factor 3 (INSL3) and testosterone) and Sertoli cell-derived hormones (i.e. inhibinB and anti-Müllerian hormone) in adult males with CAH. Serum concentrations of INSL3were particularly reduced in those with testicular adrenal rest tumors. To our knowledge,this is the first study to evaluate circulating INSL3 as a candidate biomarker to monitorLeydig cell function in patients with CAH., Congenital adrenal hyperplasia (CAH) is a recessive condition t hat affects the adrenal glands. Despite life-long replacement therapy with glucocorticoids and mineralocorticoids, adult patients with CAH often experience impaired gonadal function. In pubertal boys and in men with CAH, circulating testosterone is produced by the adrenal glands as well as the testicular, steroidogenic cells. In this European two-center study, we evaluated the function of Leydig and Sertoli cells in 61 boys and men with CAH, primarily due to 21-hydroxylase deficiency. Despite conventional hormone replacement therapy, our results indicated a significant reduction in serum concentrations of both Leydig cel l-derived hormones (i.e. insulin-like factor 3 (INSL3) and testosterone) and Sertoli cell-derived hormones (i.e. inhibin B and anti-Müllerian hormone) in adult males with CAH. Serum concentrations of INSL3 were particularly reduced in those with testicular adrenal rest tumors. To our knowledge, this is the first study to evaluate circulating INSL3 as a candi date biomarker to monitor Leydig cell function in patients with CAH.

Published
2023

26. Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation

Author

Tonin, Rodolfo, Caciotti, Anna, Funghini, Silvia, Pasquini, Elisabetta, Mooney, Sean D., Cai, Binghuang, Proncopio, Elena, Donati, Maria Alice, Baronio, Federico, Bettocchi, Ilaria, Cassio, Alessandra, Biasucci, Giacomo, Bordugo, Andrea, la Marca, Giancarlo, Guerrini, Renzo, and Morrone, Amelia

Published
2016
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27. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Author

Schröder, Mariska A. M., Neacşu, Mihaela, Adriaansen, Bas P. H., Sweep, Fred C. G. J., Ahmed, S. Faisal, Ali, Salma R., Bachega, Tânia A. S. S., Baronio, Federico, Birkebæk, Niels Holtum, de Bruin, Christiaan, Bonfig, Walter, Bryce, Jillian, Clemente, Maria, Cools, Martine, Elsedfy, Heba, Globa, Evgenia, Guran, Tulay, Güven, Ayla, Amr, Nermine Hussein, and Janus, Dominika

Subjects
ADRENAL tumors, ADRENOGENITAL syndrome, HYDROXYLASES
Abstract

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. Design and participants: This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results: TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions and relevance: A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Outcome of COVID-19 infections in patients with adrenal insufficiency and excess

Author

Nowotny, Hanna F, primary, Bryce, Jillian, additional, Ali, Salma R, additional, Giordano, Roberta, additional, Baronio, Federico, additional, Chifu, Irina, additional, Tschaidse, Lea, additional, Cools, Martine, additional, van den Akker, Erica LT, additional, Falhammar, Henrik, additional, Appelman-Dijkstra, Natasha M, additional, Persani, Luca, additional, Beccuti, Guglielmo, additional, Ross, Ian L, additional, Grozinsky-Glasberg, Simona, additional, Pereira, Alberto M, additional, Husebye, Eystein S, additional, Hahner, Stefanie, additional, Faisal Ahmed, S, additional, and Reisch, Nicole, additional

Published
2023
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31. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, primary, Cools, Martine, additional, Ioakim, Stamatina, additional, Faisal Ahmed, S, additional, Andonova, Silvia, additional, Avbelj-Stefanija, Magdalena, additional, Baronio, Federico, additional, Bouligand, Jerome, additional, Bruggenwirth, Hennie T, additional, Davies, Justin H, additional, De Baere, Elfride, additional, Dzivite-Krisane, Iveta, additional, Fernandez-Alvarez, Paula, additional, Gheldof, Alexander, additional, Giavoli, Claudia, additional, Gravholt, Claus H, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Juul, Anders, additional, Krausz, Csilla, additional, Lagerstedt-Robinson, Kristina, additional, McGowan, Ruth, additional, Neumann, Uta, additional, Novelli, Antonio, additional, Peyrassol, Xavier, additional, Phylactou, Leonidas A, additional, Rohayem, Julia, additional, Touraine, Philippe, additional, Westra, Dineke, additional, Vezzoli, Valeria, additional, and Rossetti, Raffaella, additional

Published
2022
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32. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report

Author

Aiello, Francesca, primary, Pasquali, Daniela, additional, Baronio, Federico, additional, Cassio, Alessandra, additional, Rossi, Cesare, additional, Di Fraia, Rosa, additional, Carotenuto, Raffaela, additional, Digitale, Lucia, additional, Festa, Adalgisa, additional, Luongo, Caterina, additional, Maltoni, Giulio, additional, Schiano di Cola, Roberta, additional, Del Giudice, Emanuele Miraglia, additional, and Grandone, Anna, additional

Published
2022
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33. Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) – longitudinal analysis of real world data from the I-CAH registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy E., Ali, Salma R., van den Akker, E., Bachega, Tania A.S.S., Baronio, Federico, Birkebæk, Niels, Bonfig, Walter, Claahsen-van der Grinten7, Hedi L., Cools, Martine, Costa, Eduardo Correa, De Vries, Liat, Fluck, Christa E., Gazdagh , Gabriella, Guven, Ayla, Hannema, Sabine E., Iotova, Violeta, van der Kamp , Hetty J., Krone, Ruth, Leka-Emiri , Sofia, Leon , Maria Clemente, Lichiardopol, Corina, Markosyan Markosyan , Renata L., Milenkovic, Tatjana, Costa de Miranda , Mirela, Neumann , Uta, Newell-Price, John, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, Russo, Gianni, de Sanctis, Luisa, Safwaan , Adam, Seneviratne , Sumudu, Stancampiano, M. R., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Wasniewska, Malgorzata, Yeste, Diego, Daniel, Eleni, Tomlinson, Jeremy W., Ahmed, S Faisal, and Krone, Nils P.

Published
2022

34. An International Study of the Association between Local Health Care Resources and Acute Adrenal Insufficiency Events in Children with Congenital Adrenal Hyperplasia

Author

Tseretopoulou, Xanthippi, Ali, Salma R., Bryce, Jillian, Navoda, Atapattu, Birkebæk, Niels, Baronio, Federico, Bonfig, Walter, Claahsen-van der Grinten7, Hedi L., Cools, Martine, Darendeliler, Feyza, Poyrazoglu, Sukran, de Sanctis, Luisa, Elsedfy, Heba, J.J. Finken12, Martijn, Fluck, Christa E., Gevers, Evelien, Korbonits, Marta, Guran, Tulay, Guven, Ayla, Hughes, Ieuan A, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Krone, Ruth, Lichiardopol, Corina, Mendonca, Berenice B., Bachega, Tania A. S. S., Miranda, Mirela C., Milenkovic, Tatjana, Mohnike, Klaus, Nordenstrom, Anna, van der Kamp , Hetty J., and Ahmed, Syed Faisal

Published
2022

35. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, primary, Bacila, Irina, additional, Dawson, Jeremy, additional, Bryce, Jillian, additional, Ali, Salma R., additional, van den Akker, Erica L. T., additional, Bachega, Tânia A. S. S., additional, Baronio, Federico, additional, Birkebæk, Niels H., additional, Bonfig, Walter, additional, van der Grinten, Hedi C., additional, Costa, Eduardo C., additional, de Vries, Liat, additional, Elsedfy, Heba, additional, Güven, Ayla, additional, Hannema, Sabine, additional, Iotova, Violeta, additional, van der Kamp, Hetty J., additional, Clemente, María, additional, Lichiardopol, Corina R., additional, Milenkovic, Tatjana, additional, Neumann, Uta, additional, Nordenström, Ana, additional, Poyrazoğlu, Şukran, additional, Probst‐Scheidegger, Ursina, additional, De Sanctis, Luisa, additional, Tadokoro‐Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Vieites, Ana, additional, Yavaş, Zehra, additional, Faisal Ahmed, Syed, additional, and Krone, Nils, additional

Published
2022
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36. Long-term cardiometabolic morbidity in young adults wWith classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Author

Righi, Beatrice, primary, Rashid, Ali Salma, additional, Bryce, Jillian, additional, Tolinson, Jeremy, additional, Bonfig, Walter, additional, Baronio, Federico, additional, Costa, Eduardo C, additional, Guaragna-Filho, Guilherme, additional, T'Sjoen, Guy, additional, Cools, Martine, additional, Markosyan, Renata, additional, A, S S Bachega Tania, additional, C, Miranda Mirela, additional, Iotova, Violeta, additional, Falhammar, Henrik, additional, Ceccato, Filippo, additional, Daniel, Eleni, additional, Auchus, Richard, additional, Ross, Richard, additional, and Ahmed, Faisal, additional

Published
2022
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37. Outcome of COVID-19 infections in patients with adrenal insufficiency

Author

Nowotny, Hanna, primary, Bryce, Jillian, additional, Giordano, Roberta, additional, Baronio, Federico, additional, Chifu, Irina, additional, Cools, Martine, additional, van, den Akker Erica L.T., additional, Falhammar, Henrik, additional, Appelman-Dijkstra, Natasha, additional, Persani, Luca, additional, Beccuti, Guglielmo, additional, Glasberg, Simona, additional, Pereira, Alberto M, additional, Sverre, Husebye Eystein, additional, Hahner, Stefanie, additional, Ahmed, Faisal, additional, and Reisch, Nicole, additional

Published
2022
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38. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Author

Nowotny, Hanna, primary, Neumann, Uta, additional, Tardy-Guidollet, Véronique, additional, Ahmed, S Faisal, additional, Baronio, Federico, additional, Battelino, Tadej, additional, Bertherat, Jérôme, additional, Blankenstein, Oliver, additional, Bonomi, Marco, additional, Bouvattier, Claire, additional, Brac de la Perrière, Aude, additional, Brucker, Sara, additional, Cappa, Marco, additional, Chanson, Philippe, additional, Claahsen-van der Grinten, Hedi L, additional, Colao, Annamaria, additional, Cools, Martine, additional, Davies, Justin H, additional, Dörr, Helmut-Günther, additional, Fenske, Wiebke K, additional, Ghigo, Ezio, additional, Giordano, Roberta, additional, Gravholt, Claus H, additional, Huebner, Angela, additional, Husebye, Eystein Sverre, additional, Igbokwe, Rebecca, additional, Juul, Anders, additional, Kiefer, Florian W, additional, Léger, Juliane, additional, Menassa, Rita, additional, Meyer, Gesine, additional, Neocleous, Vassos, additional, Phylactou, Leonidas A, additional, Rohayem, Julia, additional, Russo, Gianni, additional, Scaroni, Carla, additional, Touraine, Philippe, additional, Unger, Nicole, additional, Vojtková, Jarmila, additional, Yeste, Diego, additional, Lajic, Svetlana, additional, and Reisch, Nicole, additional

Published
2022
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39. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Author

Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jérôme, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, Brac de la Perrière, Aude, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L, Colao, Annamaria, Cools, Martine, Davies, Justin H, Dörr, Helmut-Günther, Fenske, Wiebke K, Ghigo, Ezio, Giordano, Roberta, Gravholt, Claus H, Huebner, Angela, Husebye, Eystein Sverre, Igbokwe, Rebecca, Juul, Anders, Kiefer, Florian W, Léger, Juliane, Menassa, Rita, Meyer, Gesine, Neocleous, Vassos, Phylactou, Leonidas A, Rohayem, Julia, Russo, Gianni, Scaroni, Carla, Touraine, Philippe, Unger, Nicole, Vojtková, Jarmila, Yeste Fernández, Diego, Lajic, Svetlana, Reisch, Nicole, Universitat Autònoma de Barcelona, Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jérôme, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, Brac de la Perrière, Aude, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L, Colao, Annamaria, Cools, Martine, Davies, Justin H, Dörr, Helmut-Günther, Fenske, Wiebke K, Ghigo, Ezio, Giordano, Roberta, Gravholt, Claus H, Huebner, Angela, Husebye, Eystein Sverre, Igbokwe, Rebecca, Juul, Anders, Kiefer, Florian W, Léger, Juliane, Menassa, Rita, Meyer, Gesine, Neocleous, Vassos, Phylactou, Leonidas A, Rohayem, Julia, Russo, Gianni, Scaroni, Carla, Touraine, Philippe, Unger, Nicole, Vojtková, Jarmila, Yeste Fernández, Diego, Lajic, Svetlana, Reisch, Nicole, and Universitat Autònoma de Barcelona

Abstract

To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN. Pdex treatment is currently provided by 36% of the surveyed centres. The treatment is initiated by different specialties, that is paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23% stated to initiate therapy at 4-5 weeks postconception (wpc), 31% at 6 wpc and 46 % as early as pregnancy is confirmed and before 7 wpc at the latest. A dose of 20 µg/kg/day is used. Dose distribution among the centres varies from once to thrice daily. Prenatal diagnostics for treated cases are conducted in 72% of the responding centres. Cases treated per country and year vary between 0.5 and 8.25. Registries for long-term follow-up are only available at 46% of the centres that are using Pdex treatment. National registries are only available in Sweden and France. This study reveals a high international variability and discrepancy in the use of Pdex treatment across Europe. It highlights the importance of a European cooperation initiative for a joint international prospective trial to establish evidence-based guidelines on prenatal diagnostics, treatment and follow-up of pregnancies at risk for CAH

Published
2022

40. The genetic diagnosis of rare endocrine disorders of sex development and maturation:a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.

Published
2022

41. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, Krone, Nils, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, and Krone, Nils

Abstract

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4). Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries. Patients: Pseudonymized data from children with 21-hydroxylase deficiency (21OHD) recorded in the International CAH Registry. Measurements: Assessments between January 2000 and October 2020 in patients prescribed HC were reviewed to summarise biomarkers 17OHP and D4 and HC dose. Longitudinal assessment of measures was carried out using linear mixed-effects models (LMEM). Results: Cohort of 345 patients, 52.2% female, median age 4.3 years (interquartile range: 3.1–9.2) were taking a median 11.3 mg/m2/day (8.6–14.4) of HC. Median 17OHP was 35.7 nmol/l (3.0–104.0). Median D4 under 12 years was 0 nmol/L (0–2.0) and above 12 years was 10.5 nmol/L (3.9–21.0). There were significant differences in biomarker values between centres (p < 0.05). Correlation between D4 and 17OHP was good in multiple regression with age (p < 0.001, R2 = 0.29). In longitudinal assessment, 17OHP levels did not change with age, whereas D4 levels increased with age (p < 0.001, R2 = 0.08). Neither biomarker varied directly with dose or weight (p > 0.05). Multivariate LMEM showed HC dose decreasing by 1.0 mg/m2/day for every 1 point increase in weight standard deviation score. Discussion: Registry data show large variability in 17OHP and D4 between centres. 17OHP correlates with D4 well when accounting for age. Prescribed HC dose per body surface area decreased with weight gain.

Published
2022

42. Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Author

Baronio, F, Zucchini, S, Zulian, F, Salerno, M, Parini, R, Cattoni, A, Deodato, F, Gaeta, A, Bizzarri, C, Gasperini, S, Pession, A, Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, Pession, Andrea, Baronio, F, Zucchini, S, Zulian, F, Salerno, M, Parini, R, Cattoni, A, Deodato, F, Gaeta, A, Bizzarri, C, Gasperini, S, Pession, A, Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, and Pession, Andrea

Abstract

Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.

Published
2022

43. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Endocrinologie patientenzorg, Child Health, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, Krone, Nils, Endocrinologie patientenzorg, Child Health, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, and Krone, Nils

Published
2022

44. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

45. Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis

Author

Baronio, Federico, primary, Conti, Francesca, additional, Miniaci, Angela, additional, Carfagnini, Filomena, additional, Di Natale, Valeria, additional, Di Donato, Giulio, additional, Testi, Matthias, additional, Totaro, Camilla, additional, De Fanti, Alessandro, additional, Boenzi, Sara, additional, Dionisi-Vici, Carlo, additional, Esposito, Susanna, additional, and Pession, Andrea, additional

Published
2022
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46. Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

Author

Grünert, Sarah C., Schumann, Anke, Baronio, Federico, Tsiakas, Konstantinos, Murko, Simona, Spiekerkoetter, Ute, and Santer, René

Subjects
Adult, Male, Adolescent, Genotype, Xenopus, SLC2A2, genotype-phenotype correlation, GLUT2, QH426-470, Article, Fanconi-Bickel syndrome, glycogen storage disease, Genetics, Animals, Humans, glucosuria, Glucose Transporter Type 2, Homozygote, Infant, Fanconi Syndrome, Pedigree, Glucose, Phenotype, Mutation, Female
Abstract

Fanconi-Bickel syndrome (FBS) is a very rare but distinct clinical entity with the combined features of hepatic glycogen storage disease, generalized proximal renal tubular dysfunction with disproportionately severe glucosuria, and impaired galactose tolerance. Here, we report five cases (out of 93 diagnosed in our lab) with pathogenic variants on both GLUT2 (SLC2A2) alleles. They come from 3 families and presented with an exceptionally mild clinical course. This course was correlated to data from old and most recent expression and transport studies in Xenopus oocytes. GLUT2 genotype in patients 1 and 2 was p.[153_4delLI], [P417R] with the first variant exhibiting normal membrane expression and partially retained transport activity (5.8%) for 2-deoxyglucose. In patient 3, the very first GLUT2 variant ever detected (p.V197I) was found, but for the first time it was present in a patient in the homozygous state. This variant had also shown unaffected membrane expression and remarkable residual activity (8%). The genotype in patient 4, p.[153_4delLI], [(E440A)], again included the 2-amino-acid deletion with residual transporter function, and patient 5 is the first found to be homozygous for this variant. Our results provide further evidence for a genotype-phenotype correlation in patients with GLUT2 variants, non-functional variants result in the full picture of FBS while dysfunctional variants may result in milder presentations, even glucosuria only, without other typical signs of FBS.

Published
2021

47. Management of childhood-onset craniopharyngioma in Italy: A multicenter seven year follow-up study of 145 patients

Author

Zucchini, Stefano, Di Iorgi, Natascia, Pozzobon, Gabriella, Pedicelli, Stefania, Parpagnoli, Maria, Driul, Daniela, Matarazzo, Patrizia, Baronio, Federico, Crocco, Marco, Giudica, Giovanna, Partenope, Cristina, Nardini, Beatrice, Ubertini, Graziamaria, Menardi, Rachele, Guzzetti, Chiara, Iughetti, Lorenzo, Aversa, Tommaso, Di Mase, Raffaella, Cassio, Alessandra, Cianfarani, Stefano, Maghnie, Mohamad, Tuli, Gerdi, Loche, Sandro, Bruzzi, Patrizia, Wasniewska, Malgorzata, Salerno, Mariacarolina, Rutigliano, Irene, Iezzi, Maria Laura, Cherubini, Valentino, Grandone, Anna, Faienza, Mariafelicia, Tumini, Stefano, Baldoli, Cristina, Consales, Alessandro, Genitori, Lorenzo, Marras, Carlo Efisio, MIlanaccio, Claudia, Mortini, Pietro, Vindigni, Marco, Zenga, Francesco, Zucchelli, Mino, Zucchini, Stefano, Di Iorgi, Natascia, Pozzobon, Gabriella, Pedicelli, Stefania, Parpagnoli, Maria, Driul, Daniela, Matarazzo, Patrizia, Baronio, Federico, Crocco, Marco, Giudica, Giovanna, Partenope, Cristina, Nardini, Beatrice, Ubertini, Graziamaria, Menardi, Rachele, Guzzetti, Chiara, Iughetti, Lorenzo, Aversa, Tommaso, Di Mase, Raffaella, Cassio, Alessandra, Cianfarani, Stefano, Maghnie, Mohamad, Tuli, Gerdi, Loche, Sandro, Bruzzi, Patrizia, Wasniewska, Malgorzata, Salerno, Mariacarolina, Rutigliano, Irene, Iezzi, Maria Laura, Cherubini, Valentino, Grandone, Anna, Faienza, Mariafelicia, Tumini, Stefano, Baldoli, Cristina, Consales, Alessandro, Genitori, Lorenzo, Marras, Carlo Efisio, Milanaccio, Claudia, Mortini, Pietro, Vindigni, Marco, Zenga, Francesco, and Zucchelli, Mino

Subjects
Craniopharyngioma, children, hypothalamic obesity, intracranial tumor, Craniopharyngioma, GH therapy, children, hypothalamic obesity, intracranial tumor, pituitary deficiency, pituitary deficiency, GH therapy
Abstract

Context: Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy. Objective: Identify patients' characteristics, type of surgical approach, complications and recurrences, number of pituitary deficits and number of patients starting GH treatment. Methods: Retrospective multicenter collection of 145 patients aged 0-18 years underwenting surgery for CP between 2000-2018, followed-up in 17 Italian centers of Pediatric Endocrinology. Results: Age at diagnosis was 8.4±4.1 years. Duration of symptoms was 10.8±12.5 months and headache was most frequent (54%), followed by impaired growth (48%) and visual disturbances (44%). Most lesions were suprasellar (85%) and histology was adamantinomatous in all cases but two. Surgical approach was transcranic (TC) in 67.5% of cases and transphenoidal (TS) in 31.%. TC approach was prevalent in all age groups. Post-surgery complications occurred in 53% of cases with water-electrolyte disturbances most frequent. Radiotherapy was used in 39% of cases. All patients but one presented at least one hormone pituitary deficiency, with TSH deficit as most frequent (98.3%), followed by ACTH (96.8%), AVP (91.1%) and GH (77.4%). BMI significantly increased over time. A hypothalamic disturbance was present in 55% of cases. GH therapy was started during follow-up in 112 patients at a mean age of 10.6 years and 54 developed a recurrence or regrowth of the residual lesion. Conclusions: CP is often diagnosed late also in Italy with TC more frequent than TS surgical approach. Post-surgery complications were not rare and hypopituitarism developed almost in all cases. BMI shows a tendency to increase overtime.

Published
2021

48. Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Author

Baronio, Federico, primary, Zucchini, Stefano, additional, Zulian, Francesco, additional, Salerno, Mariacarolina, additional, Parini, Rossella, additional, Cattoni, Alessandro, additional, Deodato, Federica, additional, Gaeta, Alberto, additional, Bizzarri, Carla, additional, Gasperini, Serena, additional, and Pession, Andrea, additional

Published
2022
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50. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, primary, Bacila, Irina, additional, Dawson, Jeremy, additional, Bryce, Jillian, additional, van, den Akker Erica, additional, Sartori, Sanchez Bachega Tania Aparecida, additional, Baronio, Federico, additional, Birkebaek, Niels Holtum, additional, Bonfig, Walter, additional, Claahsen, Hedi, additional, Correa, Costa Eduardo, additional, Devries, Liat, additional, Elsedfy, Heba, additional, Guven, Ayla, additional, Hannema, Sabine, additional, Iotova, Violeta, additional, van, der Kamp Hetty J, additional, Clemente, Leon Maria, additional, Lichiardopol, Corina Raducanu, additional, Milenkovic, Tatjana, additional, Neumann, Uta, additional, Nordenstrom, Ana, additional, Poyrazoglu, Sukran, additional, Probst-Scheidegger, Ursina, additional, De, Sanctis Luisa, additional, Thankamony, Ajay, additional, Vieites, Ana, additional, Yavas, Zehra, additional, Ahmed, Faisal, additional, and Krone, Nils, additional

Published
2021
Full Text
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