In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748–3756
Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic...
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In: Molecular Genetics & Genomic Medicine, 2018, vol. 6, no. 5, p. 785–795
Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established,...
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In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 5, p. 832-832
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In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 4, p. 563-575
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In: Annales d’Endocrinologie, 2017, vol. 78, no. 3, p. 156–161
Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian...
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In: Andrology, 2016, vol. 4, no. 2, p. 263–269
Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic defect might underline this condition....
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In: Molecular Endocrinology, 2015, p. -
CBX2 (Chromobox homolog 2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development, DSD), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1cells, using the DNA adenine methyltransferase...
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In: Molecular and Cellular Endocrinology, 2013, vol. 371, no. 1-2, p. 124–132
Following development of the fetal bipotential gonad into a testis, male genital differentiation requires testicular androgens. Fetal Leydig cells produce testosterone that is converted to dihydrotestosterone in genital skin, resulting in labio-scrotal fusion. An alternative ‘backdoor’ pathway of dihydrotestosterone synthesis that bypasses testosterone has been described in marsupials, but...
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In: Cell Metabolism, 2013, vol. 17, no. 3, p. 448-455
Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative...
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In: Seminars in Reproductive Medicine, 2012, vol. 30, no. 05, p. 387-395
The idea that the female sexual development happens by default was born in the middle of the last century after Jost performed his innovative experiments to study the bases of differentiation of the reproductive tract and found that the female reproductive tract develops even in the absence of any gonad. The term default (passive) attributed to the whole female developmental pathway, therefore,...
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