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Decreasing Insulin Sensitivity in Women Induces Alterations in LH Pulsatility

van Leckwyck, Magali ; Kong, Weilin ; Burton, Kathryn J. ; Amati, Francesca ; Vionnet, Nathalie ; Pralong, François P.

In: The Journal of Clinical Endocrinology & Metabolism, 2016, vol. 101, no. 8, p. 3240-3249

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)

Lang-Muritano, Mariarosaria ; Sproll, Patrick ; Wyss, Sascha ; Kolly, Anne ; Hürlimann, Renate ; Konrad, Daniel ; Biason-Lauber, Anna

In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748-3756

A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita

Gerster, Karine ; Katschnig, Claudia ; Wyss, Sascha ; Kolly, Anne ; Sproll, Patrick ; Biason-Lauber, Anna ; Konrad, Daniel

In: Journal of Pediatric Endocrinology and Metabolism, 2017, vol. 30, no. 12, p. 1321-1325

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin

Zalewski, Adam ; Ma, Nina S. ; Legeza, Balazs ; Renthal, Nora ; Flück, Christa E. ; Pandey, Amit V.

In: The Journal of Clinical Endocrinology & Metabolism, 2016, vol. 101, no. 9, p. 3409-3418

Interleukin-1 Antagonism Decreases Cortisol Levels in Obese Individuals

Urwyler, Sandrine Andrea ; Schuetz, Philipp ; Ebrahimi, Fahim ; Donath, Marc Y. ; Christ-Crain, Mirjam

In: The Journal of Clinical Endocrinology & Metabolism, 2017, vol. 102, no. 5, p. 1712-1718

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

Parween, Shaheena ; Roucher-Boulez, Florence ; Flück, Christa E. ; Lienhardt-Roussie, Anne ; Mallet, Delphine ; Morel, Yves ; Pandey, Amit V.

In: The Journal of Clinical Endocrinology & Metabolism, 2016, vol. 101, no. 12, p. 4789-4798

The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Ilaslan, Erkut ; Markosyan, Renata ; Sproll, Patrick ; Stevenson, Brian J. ; Sajek, Malgorzata ; Sajek, Marcin P. ; Hayrapetyan, Hasmik ; Sarkisian, Tamara ; Livshits, Ludmila ; Nef, Serge ; Jaruzelska, Jadwiga ; Kusz-Zamelczyk, Kamila

In: International Journal of Molecular Sciences, 2020, vol. 21, no. 21, p. 8403

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome...

CBX2-dependent transcriptional landscape: implications for human sex development and its defects

Sproll, Patrick ; Eid, Wassim ; Biason-Lauber, Anna

In: Scientific Reports, 2019, vol. 9, no. 1, p. 1–14

Sex development, a complex and indispensable process in all vertebrates, has still not been completely elucidated, although new genes involved in sex development are constantly being discovered and characterized. Chromobox Homolog 2 (CBX2) is one of these new additions and has been identified through a 46,XY girl with double heterozygous variants on CBX2.1, causing Differences of Sex...

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taise Lima Oliveira ; Carré, Aurore ; Chevrier, Lucie ; Szinnai, Gabor ; Tron, Elodie ; Léger, Juliane ; Cabrol, Sylvie ; Queinnec, Chrystelle ; De Roux, Nicolas ; Castanet, Mireille ; Polak, Michel ; Ramos, Helton Estrela

In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 777-784

Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty

Bustanji, Haidar ; Sahar, Bashar ; Huebner, Angela ; Ajlouni, Kamel ; Landgraf, Dana ; Hamamy, Hanan ; Koehler, Katrin

In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 933-936