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2. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

Author

Busiah, Kanetee, Drunat, Séverine, Vaivre-Douret, Laurence, Bonnefond, Amélie, Simon, Albane, Flechtner, Isabelle, Gérard, Bénédicte, Pouvreau, Nathalie, Elie, Caroline, Nimri, Revital, Vries, Liat De, Tubiana-Rufi, Nadia, Metz, Chantal, Bertrand, Anne-Marie, Nivot-Adamiak, Sylvie, de Kerdanet, Marc, Stuckens, Chantal, Jennane, Farida, Souchon, Pierre-François, Tallec, Claire Le, Désirée, Christelle, Pereira, Sabrina, Dechaume, Aurélie, Robert, Jean-Jacques, Phillip, Moshe, Scharfmann, Raphaël, Czernichow, Paul, Froguel, Philippe, Vaxillaire, Martine, Polak, Michel, and Cavé, Hélène

Published
2013
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4. Gonadectomy in conditions affecting sex development: a registry-based cohort study

Author

Lucas-Herald, Angela K, primary, Bryce, Jillian, additional, Kyriakou, Andreas, additional, Ljubicic, Marie Lindhardt, additional, Arlt, Wiebke, additional, Audi, Laura, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Bertelloni, Silvano, additional, Bettendorf, Markus, additional, Brooke, Antonia, additional, Claahsen van der Grinten, Hedi L, additional, Davies, Justin H, additional, Hermann, Gloria, additional, de Vries, Liat, additional, Hughes, Ieuan A, additional, Tadokoro-Cuccaro, Rieko, additional, Darendeliler, Feyza, additional, Poyrazoglu, Sukran, additional, Ellaithi, Mona, additional, Evliyaoglu, Olcay, additional, Fica, Simone, additional, Nedelea, Lavinia, additional, Gawlik, Aneta, additional, Globa, Evgenia, additional, Zelinska, Nataliya, additional, Guran, Tulay, additional, Güven, Ayla, additional, Hannema, Sabine E, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Iotova, Violeta, additional, Mladenov, Vilhelm, additional, Jain, Vandana, additional, Sharma, Rajni, additional, Jennane, Farida, additional, Johnston, Colin, additional, Guerra Junior, Gil, additional, Konrad, Daniel, additional, Gaisl, Odile, additional, Krone, Nils, additional, Krone, Ruth, additional, Lachlan, Katherine, additional, Li, Dejun, additional, Lichiardopol, Corina, additional, Lisa, Lidka, additional, Markosyan, Renata, additional, Mazen, Inas, additional, Mohnike, Klaus, additional, Niedziela, Marek, additional, Nordenstrom, Anna, additional, Rey, Rodolfo, additional, Skaeil, Mars, additional, Tack, Lloyd J W, additional, Tomlinson, Jeremy, additional, Weintrob, Naomi, additional, Cools, Martine, additional, and Ahmed, S Faisal, additional

Published
2021
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5. Gonadectomy in conditions affecting sex development:A registry-based cohort study

Author

Lucas-Herald, Angela K., Bryce, Jillian, Kyriakou, Andreas, Ljubicic, Marie Lindhardt, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Bettendorf, Markus, Brooke, Antonia, Van Der Grinten, Hedi L.Claahsen, Davies, Justin H., Hermann, Gloria, De Vries, Liat, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Darendeliler, Feyza, Poyrazoglu, Sukran, Ellaithi, Mona, Evliyaoglu, Olcay, Fica, Simone, Nedelea, Lavinia, Gawlik, Aneta, Globa, Evgenia, Zelinska, Nataliya, Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Hiort, Olaf, Holterhus, Paul Martin, Iotova, Violeta, Mladenov, Vilhelm, Jain, Vandana, Sharma, Rajni, Jennane, Farida, Johnston, Colin, Guerra, Gil, Konrad, Daniel, Gaisl, Odile, Krone, Nils, Krone, Ruth, Lachlan, Katherine, Li, Dejun, Lichiardopol, Corina, Lisa, Lidka, Markosyan, Renata, Mazen, Inas, Mohnike, Klaus, Niedziela, Marek, Nordenstrom, Anna, Rey, Rodolfo, Skaeil, Mars, Tack, Lloyd J.W., Tomlinson, Jeremy, Weintrob, Naomi, Cools, Martine, Ahmed, S. Faisal, Lucas-Herald, Angela K., Bryce, Jillian, Kyriakou, Andreas, Ljubicic, Marie Lindhardt, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Bettendorf, Markus, Brooke, Antonia, Van Der Grinten, Hedi L.Claahsen, Davies, Justin H., Hermann, Gloria, De Vries, Liat, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Darendeliler, Feyza, Poyrazoglu, Sukran, Ellaithi, Mona, Evliyaoglu, Olcay, Fica, Simone, Nedelea, Lavinia, Gawlik, Aneta, Globa, Evgenia, Zelinska, Nataliya, Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Hiort, Olaf, Holterhus, Paul Martin, Iotova, Violeta, Mladenov, Vilhelm, Jain, Vandana, Sharma, Rajni, Jennane, Farida, Johnston, Colin, Guerra, Gil, Konrad, Daniel, Gaisl, Odile, Krone, Nils, Krone, Ruth, Lachlan, Katherine, Li, Dejun, Lichiardopol, Corina, Lisa, Lidka, Markosyan, Renata, Mazen, Inas, Mohnike, Klaus, Niedziela, Marek, Nordenstrom, Anna, Rey, Rodolfo, Skaeil, Mars, Tack, Lloyd J.W., Tomlinson, Jeremy, Weintrob, Naomi, Cools, Martine, and Ahmed, S. Faisal

Abstract

Objectives: To determine trends in clinical practice for individuals with D SD requiring gonadectomy. Design: Retrospective cohort study. Methods: Information regarding age at gonadectomy according to diagnosis ; reported sex; time of presentation to specialist centre; and location of centre from cases reported t o the International DSD Registry and who were over 16 years old in January 2019. Results: Data regarding gonadectomy were available in 668 (88%) individu als from 44 centres. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centres in 351/668 cas es (53%). Females were more likely to undergo gonadectomy (n = 311, P < 0.0001). The indication for gonadectomy was reported in 268 (7 6%). The most common indication was mitigation of tumour risk in 172 (64%). Variatio ns in the practice of gonadectomy were observed; of the 351 cases from 36 centres, 17 (5%) at 9 centres had undergo ne gonadectomy before their first presentation to the specialist centre. Median age at gonadectomy of cases from high -income countries and low-/middle-income countries (LMIC) was 13.0 years (0.1, 68) years and 16.5 years (1, 28), r espectively (P < 0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. Conclusions: The likelihood of gonadectomy depends on the underlying diagnos is, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all f orms of DSD will allow a better understanding of the variation in the practice of gonadectomy.

Published
2021

8. Gonadectomy for adults with DSD conditions at risk of hypogonadism in the international disorders of sex development registry

Author

Herald, Angela Lucas, primary, Kyriakou, Andreas, additional, Bryce, Jillian, additional, Rodie, Martina, additional, Acerini, Carlo, additional, Arlt, Wiebke, additional, Balsamo, Antonio, additional, Baronico, Federico, additional, Bertelloni, Silvano, additional, Brooke, Antonia, additional, van, der Grinten Hedi Claahsen, additional, Cools, Martine, additional, Darendeliler, Feyza, additional, Davies, Justin H, additional, Desloovere, An, additional, Ellaithi, Mona, additional, Fica, Simona, additional, Gawlik, Aneta, additional, Guran, Tulay, additional, Hannema, Sabine, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Iotova, Violeta, additional, Jennane, Farida, additional, Lachlan, Katherine, additional, Li, Dejun, additional, Lisa, Lidka, additional, Mazen, Inas, additional, Mladenov, Wilchelm, additional, Mohnike, Klaus, additional, Nedelea, Lavnia, additional, Niedziela, Marek, additional, Nordenstrom, Anna, additional, Poyrazoglu, Sukran, additional, Rey, Rodolfo, additional, Tadokoro-Cuccaro, Rieko, additional, Weintrob, Naomi, additional, and Ahmed, Syed Faisal, additional

Published
2018
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9. A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Author

Benedikt Reiz, Susanne Thiele, Joachim Grötzinger, Dagmar Struve, Bettina Brix, Pia Staedt, Olaf Hiort, Jennane Farida, and Ralf Werner

Subjects
Parathyroid hormone, Correlation, Exon, GNAS, Genetics, GNAS complex locus, Medicine, Pseudohypoparathyroidism type Ia, Missense mutation, Gsα, Albright hereditary osteodystrophy, Molecular Biology, Genetics (clinical), Pseudohypoparathyroidism, biology, business.industry, pseudohypoparathyroidism, Original Articles, genotype–phenotype correlation, medicine.disease, RNA splicing, biology.protein, mutation, business, G proteins
Abstract

Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO) leading to pseudohypoparathyroidism type Ia (PHPIa) due to Gsα deficiency. Paternally inherited inactivating mutations lead to isolated AHO signs characterizing pseudo-pseudohypoparathyroidism (PPHP). Mutations are distributed throughout the Gsα coding exons of GNAS and there is a lack of genotype–phenotype correlation. In this study, we sequenced exon 1–13 of GNAS in a large cohort of PHPIa- and PPHP patients and identified 58 different mutations in 88 patients and 27 relatives. Thirty-three mutations including 15 missense mutations were newly discovered. Furthermore, we found three hot spots: a known hotspot (p.D190MfsX14), a second at codon 166 (p.R166C), and a third at the exon 5 acceptor splice site (c.435 + 1G>A), found in 15, 5, and 4 unrelated patients, respectively. Comparing the clinical features to the molecular genetic data, a significantly higher occurrence of subcutaneous calcifications in patients harboring truncating versus missense mutations was demonstrated. Thus, in the largest cohort of PHPIa patients described to date, we extend the spectrum of known GNAS mutations and hot spots and demonstrate for the first time a correlation between the genetic defects and the expression of a clinical AHO-feature.

Published
2014

11. A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the<bold><italic> R-spondin1 </italic></bold>Gene Associated with Familial 46,XX DSD.

Author

Naasse, Yassine, Bakhchane, Amina, Charoute, Hicham, Jennane, Farida, Bignon-Topalovic, Joelle, Malki, Abderrahim, Bashamboo, Anu, Barakat, Abdelhamid, Rouba, Hassan, and McElreavey, Ken

Subjects
CATENINS, MISSENSE mutation, SEX differentiation disorders, PALMOPLANTAR keratoderma, SQUAMOUS cell carcinoma, LEUCINE, G protein coupled receptors
Abstract

R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Both have PPK and hearing impairment and carried a novel homozygous mutation c.332G>A (p.Cys111Tyr) located in the highly conserved furin-like cysteine-rich domain-2 (FU-CRD2). Cysteines in the FU-CRDs are strictly conserved, indicating their functional importance in WNT signaling through interaction with the leucine-rich repeat-containing G-protein-coupled receptors. This is the first RSPO1 missense mutation reported in association with human disease. [ABSTRACT FROM AUTHOR]

Published
2017
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