Gonadal disorders articles within Nature Communications

Featured

• Article
  09 June 2023 | Open Access

  Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

  The SART3 gene encodes an RNA-binding protein critical for spliceosome function. Here, the authors find that bi-allelic variants in SART3 underlie a congenital condition characterised by neuro-developmental defects and 46,XY gonadal dysgenesis.

  • Katie L. Ayers
  • , Stefanie Eggers
  •  & Andrew H. Sinclair

• Article
  15 July 2022 | Open Access

  Somatic cell fate maintenance in mouse fetal testes via autocrine/paracrine action of AMH and activin B

  Fate determination and maintenance of foetal testes in most animals occurs cell autonomously. Here the authors show in mouse XY embryos that Sertoli cell derived AMH and activin B together maintain Sertoli cell identity, and lack of both AMH and activin B leads to transdifferentiation into female granulosa cells.

  • Karina F. Rodriguez
  • , Paula R. Brown
  •  & Humphrey Hung-Chang Yao

• Article
  23 April 2021 | Open Access

  RANKL regulates male reproductive function

  There are few treatments for male infertility. Here, the authors show that the receptor activator of NF-κB ligand (RANKL) signalling pathway has important functions in sperm production and maturation, improves fertility in male mice and shows potential as a male infertility target.

  • Martin Blomberg Jensen
  • , Christine Hjorth Andreassen
  •  & Anders Juul

• Article
  05 December 2017 | Open Access

  In vivo transplantation of 3D encapsulated ovarian constructs in rats corrects abnormalities of ovarian failure

  Cell-based hormone replacement therapy (cHRT) may be an alternative therapy to pharmacological (p)HRT. Here, the authors show that implanted 3D bioengineered ovarian constructs of granulosa and theca cells in ovariectomized rats recapitulate native cell interactions and improve efficacy compared to similar doses of pHRT.

  • Sivanandane Sittadjody
  • , Justin M. Saul
  •  & Emmanuel C. Opara

• Article
  12 January 2016 | Open Access

  Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion

  Anti-Müllerian hormone (AMH) plays a role in sexual differentiation and gonadal function, but extra-gonadal effects of AMH are not known. Here Cimino et al. show that AMH activates a subset of gonadotrophin-releasing hormone (GnRH)-releasing neurons, contributing to luteinizing hormone secretion from the pituitary gland.

  • Irene Cimino
  • , Filippo Casoni
  •  & Paolo Giacobini

• Article
  29 September 2015 | Open Access

  Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

  This paper describes the largest genome-wide association study to date on polycystic ovary syndrome (PCOS), a common reproductive disorder in women. Six genetic loci—including known targets of cancer chemotherapy—were identified, and the authors infer causal and balancing selection mechanisms involved in PCOS risk and susceptibility.

  • Felix R. Day
  • , David A. Hinds
  •  & John R. B. Perry

• Article
  18 August 2015 | Open Access

  Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

  Polycystic Ovary Sydrome is a highly heritable, complex reproductive disorder with unknown underlying genetic factors. Here Hayes and Urbanek et al. identify three loci in European women strongly associated with neuroendocrine changes and disease susceptibility.

  • M. Geoffrey Hayes
  • , Margrit Urbanek
  •  & Andrea Dunaif