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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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4. Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche

Author

Cattoni, A, Russo, G, Capitoli, G, Rodari, G, Nicolosi, M, Molinari, S, Tondelli, D, Pelliccia, C, Radaelli, S, Arosio, A, Fontana, K, Tattesi, G, Passoni, P, Boneschi, A, Giavoli, C, Meroni, S, Stancampiano, M, Garuti, E, Biondi, A, Balduzzi, A, Bizzarri, C, Cattoni, Alessandro, Russo, Gianni, Capitoli, Giulia, Rodari, Giulia, Nicolosi, Maria Laura, Molinari, Silvia, Tondelli, Daniele, Pelliccia, Ciretta, Radaelli, Silvia, Arosio, Andrea Mario Luciano, Fontana, Katia, Tattesi, Giulia, Passoni, Paolo, Boneschi, Annalisa, Giavoli, Claudia, Meroni, Silvia Laura Carla, Stancampiano, Marianna Rita, Garuti, Elda, Biondi, Andrea, Balduzzi, Adriana, Bizzarri, Carla, Cattoni, A, Russo, G, Capitoli, G, Rodari, G, Nicolosi, M, Molinari, S, Tondelli, D, Pelliccia, C, Radaelli, S, Arosio, A, Fontana, K, Tattesi, G, Passoni, P, Boneschi, A, Giavoli, C, Meroni, S, Stancampiano, M, Garuti, E, Biondi, A, Balduzzi, A, Bizzarri, C, Cattoni, Alessandro, Russo, Gianni, Capitoli, Giulia, Rodari, Giulia, Nicolosi, Maria Laura, Molinari, Silvia, Tondelli, Daniele, Pelliccia, Ciretta, Radaelli, Silvia, Arosio, Andrea Mario Luciano, Fontana, Katia, Tattesi, Giulia, Passoni, Paolo, Boneschi, Annalisa, Giavoli, Claudia, Meroni, Silvia Laura Carla, Stancampiano, Marianna Rita, Garuti, Elda, Biondi, Andrea, Balduzzi, Adriana, and Bizzarri, Carla

Abstract

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche. Methods: Retrospective, multicenter analysis. Girls assessed for sexual precocity and showing sonographic and clinical findings consistent with pubertal onset upon referral were considered eligible. Patients treated with GnRH analogues were excluded and only those who had subsequently achieved complete and spontaneous pubertal attainment and for whom the exact date of menarche was available were included. Overall, we enrolled 184 girls from five tertiary care Italian Centers. Results: The time elapsed (months) between baseline endocrine assessment and spontaneous achievement of menarche showed a negative statistically significant correlation (p<0.0001) with LH (r:-0.61), FSH (r:-0.59), estradiol (r:-0.52) and stimulated LH values (r:-0.58). Among pUS parameters, ovarian volume (r:-0.17 left, -0.30 right) and uterine body-to-cervix ratio (r:-0.18) poorly correlated with TUS-M, while uterine diameters (r:-0.61 longitudinal, -0.64 anteroposterior) and volume (r:-0.70) achieved a highly statistical significance (p<0.0001). Uterine volume (UV) showed a negative logarithmic relationship with TUS-M and represented the most reliable predictor of the timing of menarche in uni- and multivariable analyses (p <0.001). ROC analyses identified the UV thresholds that best predict the onset of menarche within 18, 12 and 6 months, respectively: 3.76, 6.02 and 8.80 ml. Conclusion: The logarithm of UV shows the best statistical performance in predicting the timing of menarche in girls assessed for pubertal precocity. Accordingly, we developed a user-friendly online a

Published
2024

5. Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche.

Author

Cattoni, Alessandro, Russo, Gianni, Capitoli, Giulia, Rodari, Giulia, Nicolosi, Maria Laura, Molinari, Silvia, Tondelli, Daniele, Pelliccia, Ciretta, Radaelli, Silvia, Luciano Arosio, Andrea Mario, Fontana, Katia, Tattesi, Giulia, Passoni, Paolo, Boneschi, Annalisa, Giavoli, Claudia, Carla Meroni, Silvia Laura, Stancampiano, Marianna Rita, Garuti, Elda, Biondi, Andrea, and Balduzzi, Adriana

Subjects
PUBERTY, MENARCHE, ULTRASONIC imaging, HIGH-intensity focused ultrasound, STATISTICAL significance, PRECOCIOUS puberty, GONADOTROPIN releasing hormone, TERTIARY care
Abstract

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche. Methods: Retrospective, multicenter analysis. Girls assessed for sexual precocity and showing sonographic and clinical findings consistent with pubertal onset upon referral were considered eligible. Patients treated with GnRH analogues were excluded and only those who had subsequently achieved complete and spontaneous pubertal attainment and for whom the exact date of menarche was available were included. Overall, we enrolled 184 girls from five tertiary care Italian Centers. Results: The time elapsed (months) between baseline endocrine assessment and spontaneous achievement of menarche showed a negative statistically significant correlation (p<0.0001) with LH (r:-0.61), FSH (r:-0.59), estradiol (r:- 0.52) and stimulated LH values (r:-0.58). Among pUS parameters, ovarian volume (r:-0.17 left, -0.30 right) and uterine body-to-cervix ratio (r:-0.18) poorly correlated with TUS-M, while uterine diameters (r:-0.61 longitudinal, -0.64 anteroposterior) and volume (r:-0.70) achieved a highly statistical significance (p<0.0001). Uterine volume (UV) showed a negative logarithmic relationship with TUS-M and represented the most reliable predictor of the timing of menarche in uni- and multivariable analyses (p <0.001). ROC analyses identified the UV thresholds that best predict the onset of menarche within 18, 12 and 6 months, respectively: 3.76, 6.02 and 8.80 ml. Conclusion: The logarithm of UV shows the best statistical performance in predicting the timing of menarche in girls assessed for pubertal precocity. Accordingly, we developed a user-friendly online application that provides clinicians with an estimation of the months expected to elapse before menarche, based on the UV recorded upon pUS. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Urogenital Abnormalities in Adenosine Deaminase Deficiency

Author

Pajno, Roberta, Pacillo, Lucia, Recupero, Salvatore, Cicalese, Maria P., Ferrua, Francesca, Barzaghi, Federica, Ricci, Silvia, Marzollo, Antonio, Pecorelli, Silvia, Azzari, Chiara, Finocchi, Andrea, Cancrini, Caterina, Di Matteo, Gigliola, Russo, Gianni, Alfano, Massimo, Lesma, Arianna, Salonia, Andrea, Adams, Stuart, Booth, Claire, and Aiuti, Alessandro

Published
2020
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8. Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort

Author

Cassio, Alessandra, Marescotti, Gloria, Aversa, Tommaso, Salerno, Mariacarolina, Tornese, Gianluca, Stancampiano, Marianna, Tuli, Gerdi, Faienza, Maria Felicia, Cavarzere, Paolo, Fava, Daniela, Parpagnoli, Maria, Bruzzi, Patrizia, Ibba, Anastasia, Calcaterra, Valeria, Mameli, Chiara, Grandone, Anna, Cherubini, Valentino, Assirelli, Valentina, Franchina, Francesca, Capalbo, Donatella, Di Mase, Raffaella, Tamaro, Gianluca, Cavasin, Julia, Munarin, Jessica, Russo, Gianni, and Wasniewska, Malgorzata

Published
2024
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9. 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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12. 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

14. 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

15. 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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16. Congenital micropenis: aetiology and management

Author

Stancampiano, Marianna Rita, Suzuki, Kentaro, O’Toole, Stuart, Russo, Gianni, Yamada, Gen, and Ahmed, Syed Faisal

Abstract

In the newborn, penile length is determined by a number of androgen dependent and independent factors. The current literature suggests that there are inter-racial differences in stretched penile length in the newborn and although congenital micropenis should be defined as a stretched penile length of less than 2.5SDS of the mean for the corresponding population and gestation, a pragmatic approach would be to evaluate all boys with a stretched penile length below 2 cm, as congenital micropenis can be a marker for a wide range of endocrine conditions. However, it remains unclear as to whether the state of micropenis, itself, is associated with any long-term consequences. There is a lack of systematic studies comparing the impact of different therapeutic options on long-term outcomes, in terms of genital appearance, quality of life and sexual satisfaction. To date, research has been hampered by a small sample size and inclusion of a wide range of heterogeneous diagnoses; for these reasons, condition specific outcomes have been difficult to compare between studies. Lastly, there is a need for a greater collaborative effort in collecting standardized data so that all real-world or experimental interventions performed at an early age can be studied systematically into adulthood.

Published
2022

19. Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21-hydroxylase deficiency in Europe

Author

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

Published
2021

20. Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism:Results of an International Survey from the I-DSD Registry

Author

Stancampiano, Marianna R., Lucas-Herald, Angela K., Bryce, Jillian, Russo, Gianni, Barera, Graziano, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Valiani, Margherita, Cools, Martine, Tack, Lloyd J.W., Darendeliler, Feyza, Poyrazoglu, Sukran, Globa, Evgenia, Grinspon, Romina, Hannema, Sabine E., Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Mladenov, Vilhelm, Konrad, Daniel, Mazen, Inas, Niedziela, Marek, Kolesinska, Zofia, Nordenström, Anna, Faisal Ahmed, S., Stancampiano, Marianna R., Lucas-Herald, Angela K., Bryce, Jillian, Russo, Gianni, Barera, Graziano, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Valiani, Margherita, Cools, Martine, Tack, Lloyd J.W., Darendeliler, Feyza, Poyrazoglu, Sukran, Globa, Evgenia, Grinspon, Romina, Hannema, Sabine E., Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Mladenov, Vilhelm, Konrad, Daniel, Mazen, Inas, Niedziela, Marek, Kolesinska, Zofia, Nordenström, Anna, and Faisal Ahmed, S.

Abstract

It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice of TRT in boys included in the I-DSD Registry. All participating centres in the I-DSD Registry that had boys between 10 and 18 years of age and with a condition that could be associated with hypogonadism were invited to provide further information in 2019. Information on 162 boys was collected from 15 centres that had a median (range) number of 6 boys per centre (1.35). Of these, 30 (19%) from 9 centres were receiving TRT and the median (range) age at the start was 12.6 years (10.8-16.2), with 6 boys (20%) starting at <12 years. Median (range) age of boys not on TRT was 11.7 years (10.7-17.7), and 69 out of 132 (52%) were <12 years. TRT had been initiated in 20 of 71 (28%) boys with a disorder of gonadal development, 3 of 14 (21%) with a disorder of androgen synthesis, and all 7 (100%) boys with hypogonadotropic hypogonadism. The remainder who did not have TRT included 15 boys with partial androgen insensitivity, 52 with non-specific XY DSD, and 3 with persistent Müllerian duct syndrome. Before starting TRT, liver function and blood count were checked in 19 (68%) and 18 boys (64%), respectively, a bone age assessment was performed in 23 (82%) and bone mineral density assessment in 12 boys (43%). This snapshot of contemporary practice reveals that TRT in boys included in the I-DSD Registry is not very common, whilst the variation in starting and monitoring therapy is quite marked. Standardisation of practice may lead to more effective assessment of treatment outcomes.

Published
2021

21. Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry

Author

Stancampiano, Marianna R, Lucas-Herald, Angela K, Bryce, Jillian, Russo, Gianni, Barera, Graziano, Balsamo, Antonio; https://orcid.org/0000-0002-9313-263X, Baronio, Federico, Bertelloni, Silvano, Valiani, Margherita, Cools, Martine, Tack, Lloyd J W, Darendeliler, Feyza, Poyrazoglu, Sukran; https://orcid.org/0000-0001-6806-9678, Globa, Evgenia; https://orcid.org/0000-0001-7885-8195, Grinspon, Romina, Hannema, Sabine E, Hughes, Ieuan A, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Mladenov, Vilhelm, Konrad, Daniel; https://orcid.org/0000-0001-9067-4356, Mazen, Inas, Niedziela, Marek; https://orcid.org/0000-0001-8862-6937, Kolesinska, Zofia, Nordenström, Anna, Ahmed, S Faisal; https://orcid.org/0000-0003-0689-5549, Stancampiano, Marianna R, Lucas-Herald, Angela K, Bryce, Jillian, Russo, Gianni, Barera, Graziano, Balsamo, Antonio; https://orcid.org/0000-0002-9313-263X, Baronio, Federico, Bertelloni, Silvano, Valiani, Margherita, Cools, Martine, Tack, Lloyd J W, Darendeliler, Feyza, Poyrazoglu, Sukran; https://orcid.org/0000-0001-6806-9678, Globa, Evgenia; https://orcid.org/0000-0001-7885-8195, Grinspon, Romina, Hannema, Sabine E, Hughes, Ieuan A, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Mladenov, Vilhelm, Konrad, Daniel; https://orcid.org/0000-0001-9067-4356, Mazen, Inas, Niedziela, Marek; https://orcid.org/0000-0001-8862-6937, Kolesinska, Zofia, Nordenström, Anna, and Ahmed, S Faisal; https://orcid.org/0000-0003-0689-5549

Abstract

It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice of TRT in boys included in the I-DSD Registry. All participating centres in the I-DSD Registry that had boys between 10 and 18 years of age and with a condition that could be associated with hypogonadism were invited to provide further information in 2019. Information on 162 boys was collected from 15 centres that had a median (range) number of 6 boys per centre (1.35). Of these, 30 (19%) from 9 centres were receiving TRT and the median (range) age at the start was 12.6 years (10.8–16.2), with 6 boys (20%) starting at <12 years. Median (range) age of boys not on TRT was 11.7 years (10.7–17.7), and 69 out of 132 (52%) were <12 years. TRT had been initiated in 20 of 71 (28%) boys with a disorder of gonadal development, 3 of 14 (21%) with a disorder of androgen synthesis, and all 7 (100%) boys with hypogonadotropic hypogonadism. The remainder who did not have TRT included 15 boys with partial androgen insensitivity, 52 with non-specific XY DSD, and 3 with persistent Müllerian duct syndrome. Before starting TRT, liver function and blood count were checked in 19 (68%) and 18 boys (64%), respectively, a bone age assessment was performed in 23 (82%) and bone mineral density assessment in 12 boys (43%). This snapshot of contemporary practice reveals that TRT in boys included in the I-DSD Registry is not very common, whilst the variation in starting and monitoring therapy is quite marked. Standardisation of practice may lead to more effective assessment of treatment outcomes.

Published
2021

23. Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe

Author

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

Published
2021
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24. Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry

Author

Stancampiano, Marianna R., primary, Lucas-Herald, Angela K., additional, Bryce, Jillian, additional, Russo, Gianni, additional, Barera, Graziano, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Bertelloni, Silvano, additional, Valiani, Margherita, additional, Cools, Martine, additional, Tack, Lloyd J.W., additional, Darendeliler, Feyza, additional, Poyrazoglu, Sukran, additional, Globa, Evgenia, additional, Grinspon, Romina, additional, Hannema, Sabine E., additional, Hughes, Ieuan A., additional, Tadokoro-Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Iotova, Violeta, additional, Mladenov, Vilhelm, additional, Konrad, Daniel, additional, Mazen, Inas, additional, Niedziela, Marek, additional, Kolesinska, Zofia, additional, Nordenström, Anna, additional, and Ahmed, S. Faisal, additional

Published
2021
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26. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort

Author

Capalbo, Donatella, primary, Moracas, Cristina, additional, Cappa, Marco, additional, Balsamo, Antonio, additional, Maghnie, Mohamad, additional, Wasniewska, Malgorzata Gabriela, additional, Greggio, Nella Augusta, additional, Baronio, Federico, additional, Bizzarri, Carla, additional, Ferro, Giusy, additional, Di Lascio, Alessandra, additional, Stancampiano, Marianna Rita, additional, Azzolini, Sara, additional, Patti, Giuseppa, additional, Longhi, Silvia, additional, Valenzise, Mariella, additional, Radetti, Giorgio, additional, Betterle, Corrado, additional, Russo, Gianni, additional, and Salerno, Mariacarolina, additional

Published
2020
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28. Congenital Micropenis: Etiology And Management.

Author

Stancampiano, Marianna Rita, Suzuki, Kentaro, O'Toole, Stuart, Russo, Gianni, Yamada, Gen, and Ahmed, Syed Faisal

Subjects
SEXUAL excitement, ETIOLOGY of diseases, QUALITY of life, ADULTS, NEWBORN infants
Abstract

In the newborn, penile length is determined by a number of androgen dependent and independent factors. The current literature suggests that there are interracial differences in stretched penile length in the newborn and although congenital micropenis should be defined as a stretched penile length of less than 2.5 SDS of the mean for the corresponding population and gestation, a pragmatic approach would be to evaluate all boys with a stretched penile length below 2 cm, as congenital micropenis can be a marker for a wide range of endocrine conditions. However, it remains unclear as to whether the state of micropenis, itself, is associated with any long-term consequences. There is a lack of systematic studies comparing the impact of different therapeutic options on long-term outcomes, in terms of genital appearance, quality of life, and sexual satisfaction. To date, research has been hampered by a small sample size and inclusion of a wide range of heterogeneous diagnoses; for these reasons, condition-specific outcomes have been difficult to compare between studies. Lastly, there is a need for a greater collaborative effort in collecting standardized data so that all real-world or experimental interventions performed at an early age can be studied systematically into adulthood. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Primary adrenal insufficiency in children: results from a large nationwide cohort

Author

Improda, Nicola, primary, Esposito, Andrea, additional, Capalbo, Donatella, additional, Cappa, Marco, additional, Ferro, Giusy, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Russo, Gianni, additional, Lascio, Alessandra Di, additional, Greggio, Nella Augusta, additional, Tosetto, Ilaria, additional, Valenzise, Mariella, additional, Wasniewska, Malgorzata, additional, Maghnie, Mohamad, additional, Radetti, Giorgio, additional, Longhi, Silvia, additional, Betterle, Corrado, additional, and Salerno, Mariacarolina, additional

Published
2019
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37. Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

Author

Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, and Salerno, Mariacarolina

Subjects
ADRENAL insufficiency, AUTOANTIBODIES, CYTOMEGALOVIRUS diseases, MEDICAL sciences
Abstract

Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.Patients and Methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.Results: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was -0.70 ± 1.20 standard deviation score.Conclusions: We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition. [ABSTRACT FROM AUTHOR]

Published
2021
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38. Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia.

Author

Wasniewska, Malgorzata Gabriela, Morabito, Letteria Anna, Baronio, Federico, Einaudi, Silvia, Salerno, Mariacarolina, Bizzarri, Carla, Russo, Gianni, Chiarito, Mariangela, Grandone, Anna, Guazzarotti, Laura, Spinuzza, Antonietta, Corica, Domenico, Ortolano, Rita, Balsamo, Antonio, Abrigo, Enrica, Baldini Ferroli, Barbara, Alibrandi, Angela, Capalbo, Donatella, Aversa, Tommaso, and Faienza, Maria Felicia

Subjects
ADRENOGENITAL syndrome, ADULT children, CARDIAC amyloidosis, AGE, MOLECULAR diagnosis, PEDIATRIC endocrinology
Abstract

Background: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often present increased growth velocity secondary to elevation of adrenal androgens that accelerates bone maturation and might compromise adult height (AH). Objective: The aim of the study was to analyze prognostic factors affecting growth trajectory (GT) and AH in children with NCCAH. Methods: The study was a retrospective, multicentric study. The study population consisted of 192 children with a confirmed molecular diagnosis of NCCAH, followed by pediatric endocrinology centers from diagnosis up to AH. Clinical records were collected and analyzed. AH (standard deviation score; SDS), pubertal growth (PG) (cm), GT from diagnosis to AH (SDS), and AH adjusted to target height (TH) (AH-TH SDS) were evaluated as outcome indicators using stepwise linear regression models. Results: The stepwise linear regression analysis showed that AH and AH-TH were significantly related to chronological age (CA) (p = 0.008 and 0.016), bone age (BA)/CA ratio (p = 0.004 and 0.001), height (H) (p < 0.001 for both parameters) at NCCAH diagnosis, and TH (p = 0.013 and <0.001). PG was higher in males than in females (22.59 ± 5.74 vs. 20.72 ± 17.4 cm, p = 0.002), as physiologically observed, and was positively related to height (p = 0.027), negatively to BMI (p = 0.001) and BA/CA ratio (p = 0.001) at NCCAH diagnosis. Gender, genotype, biochemical data, and hydrocortisone treatment did not significantly impair height outcomes of these NCCAH children. Conclusions: The results of this study suggest that AH and GT of NCCAH patients are mainly affected by the severity of phenotype (CA, BA/CA ratio, and H) at the time of diagnosis. [ABSTRACT FROM AUTHOR]

Published
2020
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41. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Author

Bonomi, Marco, primary, Vezzoli, Valeria, additional, Krausz, Csilla, additional, Guizzardi, Fabiana, additional, Vezzani, Silvia, additional, Simoni, Manuela, additional, Bassi, Ivan, additional, Duminuco, Paolo, additional, Di Iorgi, Natascia, additional, Giavoli, Claudia, additional, Pizzocaro, Alessandro, additional, Russo, Gianni, additional, Moro, Mirella, additional, Fatti, Letizia, additional, Ferlin, Alberto, additional, Mazzanti, Laura, additional, Zatelli, Maria Chiara, additional, Cannavò, Salvo, additional, Isidori, Andrea M, additional, Pincelli, Angela Ida, additional, Prodam, Flavia, additional, Mancini, Antonio, additional, Limone, Paolo, additional, Tanda, Maria Laura, additional, Gaudino, Rossella, additional, Salerno, Mariacarolina, additional, Francesca, Pregnolato, additional, Maghnie, Mohamad, additional, Maggi, Mario, additional, Persani, Luca, additional, _, _, additional, Aimaretti, G, additional, Altobelli, M, additional, Ambrosio, M R, additional, Andrioli, M, additional, Angeletti, G, additional, Arecco, F, additional, Arnaldi, G, additional, Arosio, M, additional, Balsamo, A, additional, Baldassarri, M, additional, Bartalena, L, additional, Bazzoni, N, additional, Beccaria, L, additional, Beck-Peccoz, P, additional, Bellastella, G, additional, Bellizzi, M, additional, Benedicenti, F, additional, Bernasconi, S, additional, Bizzarri, C, additional, Bona, G, additional, Bonadonna, S, additional, Borretta, G, additional, Boschetti, M, additional, Brunani, A, additional, Brunelli, V, additional, Buzi, F, additional, Cacciatore, C, additional, Cangiano, B, additional, Cappa, M, additional, Casalone, R, additional, Cassio, A, additional, Cavarzere, P, additional, Cherubini, V, additional, Ciampani, T, additional, Cicognani, D, additional, Cignarelli, A, additional, Cisternino, M, additional, Colombo, P, additional, Corbetta, S, additional, Corciulo, N, additional, Corona, G, additional, Cozzi, R, additional, Crivellaro, C, additional, Dalle Mule, I, additional, Danesi, L, additional, D’Elia, A V, additional, degli Uberti, E, additional, De Leo, S, additional, Della Valle, E, additional, De Marchi, M, additional, Di Iorgi, N, additional, Di Mambro, A, additional, Fabbri, A, additional, Foresta, C, additional, Forti, G, additional, Franceschi, A R, additional, Garolla, A, additional, Ghezzi, M, additional, Giacomozzi, C, additional, Giusti, M, additional, Grosso, E, additional, Guabello, G, additional, Guarneri, M P, additional, Grugni, G, additional, Isidori, A M, additional, Lanfranco, F, additional, Lania, A, additional, Lanzi, R, additional, Larizza, L, additional, Lenzi, A, additional, Loche, S, additional, Loli, P, additional, Lombardi, V, additional, Maggio, M C, additional, Mandrile, G, additional, Manieri, C, additional, Mantovani, G, additional, Marelli, S, additional, Marzullo, M, additional, Mencarelli, M A, additional, Migone, N, additional, Motta, G, additional, Neri, G, additional, Padova, G, additional, Parenti, G, additional, Pasquino, B, additional, Pia, A, additional, Piantanida, E, additional, Pignatti, E, additional, Pilotta, A, additional, Pivetta, B, additional, Pollazzon, M, additional, Pontecorvi, A, additional, Porcelli, P, additional, Pozzan, G B, additional, Pozzobon, G, additional, Radetti, G, additional, Razzore, P, additional, Rocchetti, L, additional, Roncoroni, R, additional, Rossi, G, additional, Sala, E, additional, Salvatoni, A, additional, Salvini, F, additional, Secco, A, additional, Segni, M, additional, Selice, R, additional, Sgaramella, P, additional, Sileo, F, additional, Sinisi, A A, additional, Sirchia, F, additional, Spada, A, additional, Tresoldi, A, additional, Vigneri, R, additional, Weber, G, additional, and Zucchini, S, additional

Published
2018
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44. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

Author

Bertelloni, Silvano, primary, Baldinotti, Fulvia, additional, Russo, Gianni, additional, Ghirri, Paolo, additional, Dati, Eleonora, additional, Michelucci, Angela, additional, Moscuzza, Francesca, additional, Meroni, Silvia, additional, Colombo, Ilaria, additional, Sessa, Maria R., additional, and Baroncelli, Giampiero I., additional

Published
2016
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45. Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development.

Author

Bertelloni, Silvano, Russo, Gianni, and Baroncelli, Giampiero I.

Subjects
*CHORIONIC gonadotropins, *LEYDIG cells, *INTERSTITIAL cells, *PEPTIDE hormones, *SEX differentiation disorders, *SEXUAL dysfunction, *SEX (Biology)
Abstract

The human chorionic gonadotropin (hCG) test represents a key step in assessing Leydig cell function in prepubertal males, but differences in terms of hCG doses, number of injections, and sequence of blood drawing are published in the literature, showing poor standardization. The few available data in healthy boys are summarized here. A recombinant hCG (rhCG) formulation might permit overcoming some controversies as well as avoid the potential biological risk related to the injection of extractive hormones. Studies in humans are scarce, but they indicate that 250 µg rhCG in a single dose may represent a useful scheme for the dynamic evaluation of Leydig cell function in children as well as in adults. The main indication for hCG testing in childhood is the investigation of 46,XY disorders of sex differentiation. The test must also be considered in order to investigate the presence of functional testicular tissue when gonadal peptide hormones cannot be measured. [ABSTRACT FROM AUTHOR]

Published
2018
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46. Effects of foliar application of glycine betaine and chitosan on Puccinellia distans(Jacq.) Pari, subjected to salt stress

Author

Oddo, Elisabetta, Russo, Gianni, and Grisafi, Francesca

Abstract

Introduction: Using brackish water for irrigation may expose turfgrasses to salinity stress. Employing the best treatments to maintain high-quality turfs under saline conditions is an important requirement for turfgrass management. Methods: We tested the response of a halophyte grass, Puccinellia distans, to irrigation with saline solutions and to foliar application of two osmoprotectants, such as glycine betaine (GB) or chitosan (CH). Plants were grown in pots under controlled conditions and irrigated with 200 mM or 600 mM of NaCl solutions. The response to salinity treatments and osmoprotectant application was evaluated after 90 days by measuring leaf firing, leaf density, shoot length and biomass, root length, and shoot water potential. Results: Increasing salinity reduced shoot density, shoot and root length, shoot water potential, and increased leaf firing and shoot solute potential at 200 mM of NaCl. These effects were more pronounced at 600 mM of NaCl. Application of GB greatly increased shoot growth traits at 200 mM of NaCl and also showed beneficial effects on most traits at 600 mM. Application of CH showed positive effects only on leaf firing and leaf water potential at 600 mM. Conclusions: Our results show that P. distanscan tolerate high levels of salt stress, which can be best alleviated by GB treatment.

Published
2019
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50. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Author

Vetro, Annalisa, primary, Dehghani, Mohammad Reza, additional, Kraoua, Lilia, additional, Giorda, Roberto, additional, Beri, Silvana, additional, Cardarelli, Laura, additional, Merico, Maurizio, additional, Manolakos, Emmanouil, additional, Parada-Bustamante, Alexis, additional, Castro, Andrea, additional, Radi, Orietta, additional, Camerino, Giovanna, additional, Brusco, Alfredo, additional, Sabaghian, Marjan, additional, Sofocleous, Crystalena, additional, Forzano, Francesca, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Calvano, Savino, additional, Zelante, Leopoldo, additional, Grammatico, Paola, additional, Giglio, Sabrina, additional, Basly, Mohamed, additional, Chaabouni, Myriam, additional, Carella, Massimo, additional, Russo, Gianni, additional, Bonaglia, Maria Clara, additional, and Zuffardi, Orsetta, additional

Published
2014
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