disorders of sex development


Summary: In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.

Top Publications

  1. Sulston J, Horvitz H. Post-embryonic cell lineages of the nematode, Caenorhabditis elegans. Dev Biol. 1977;56:110-56 pubmed
  2. Geraudie P, Gerbron M, Minier C. Endocrine disruption effects in male and intersex roach (Rutilus rutilus, L.) from French rivers: An integrative approach based on subcellular to individual responses. Comp Biochem Physiol B Biochem Mol Biol. 2017;211:29-36 pubmed publisher
    ..The chemical organic contamination at the different location sites has been characterized by the levels of PAHs, PCBs and phthalates and total estrogenic activity was measured by the YES in vitro assay. ..
  3. Vellnow N, Vizoso D, Viktorin G, Scharer L. No evidence for strong cytonuclear conflict over sex allocation in a simultaneously hermaphroditic flatworm. BMC Evol Biol. 2017;17:103 pubmed publisher
  4. Genel M, Simpson J, de la Chapelle A. The Olympic Games and Athletic Sex Assignment. JAMA. 2016;316:1359-1360 pubmed publisher
  5. Pienkowska Schelling A, Wyss F, Baumeyer A, Wenker C, Schelling C. [Chromosomal aberrations in a subfertile cotton-top tamarin]. Schweiz Arch Tierheilkd. 2017;159:387-391 pubmed publisher
    ..Biologische Besonderheiten der Krallenaffen, wie Mehrlingsträchtigkeit und genetischer Chimärismus erschwerten die Aufklärung der Pathogenese und verhinderten eine verlässliche Prognose zur Fruchtbarkeit des Lisztäffchens. ..
  6. Mao Y, Chen S, Wang R, Wang X, Qin D, Tang Y. Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series. BMC Urol. 2017;17:21 pubmed publisher
    ..No gonadal tumors were detected. OT-DSD is a rare and complex deformity with few systematic reports in China. It's important to establish a regular algorithm for evaluation and treatment of OT-DSD. ..
  7. Kulle A, Krone N, Holterhus P, Schuler G, Greaves R, Juul A, et al. Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'. Eur J Endocrinol. 2017;176:P1-P9 pubmed publisher
    ..The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed. ..
  8. Sung M, Kawasaki I, Shim Y. Depletion of cdc-25.3, a Caenorhabditis elegans orthologue of cdc25, increases physiological germline apoptosis. FEBS Lett. 2017;591:2131-2146 pubmed publisher
    ..3 mutants is induced by accumulation of DSBs, leading to a loss of PGL-1 and PGL-3 in germ cells, which promotes cytoplasmic translocation of SIR-2.1, and finally activates the core apoptotic machinery. ..
  9. Davies J, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017;102:968-974 pubmed publisher
    ..The aim of this article is to provide an initial approach to the management of a baby born with atypical or ambiguous genitalia. ..

More Information


  1. Sun S, Klebaner F, Tian T. Mathematical modelling for variations of inbreeding populations fitness with single and polygenic traits. BMC Genomics. 2017;18:196 pubmed publisher
    ..In addition, the calculated purging rate shows that inbreeding mating purges the deleterious mutants more efficiently than randomly mating does. ..
  2. Owen R, Jobling S. Environmental science: The hidden costs of flexible fertility. Nature. 2012;485:441 pubmed publisher
  3. van der Horst H, de Wall L. Hypospadias, all there is to know. Eur J Pediatr. 2017;176:435-441 pubmed publisher
    ..What is New: • Long-term complications include urinary tract symptoms and sexual and cosmetic issues. • New developments allow a more individualized approach, hopefully leading to less complications and more patient satisfaction. ..
  4. SÅ‚owikowska Hilczer J, Hirschberg A, Claahsen van der Grinten H, Reisch N, Bouvattier C, Thyen U, et al. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. Fertil Steril. 2017;108:822-831 pubmed publisher
    To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received...
  5. Miccoli A, Maradonna F, De Felice A, Caputo Barucchi V, Estonba A, Genangeli M, et al. Detection of endocrine disrupting chemicals and evidence of their effects on the HPG axis of the European anchovy Engraulis encrasicolus. Mar Environ Res. 2017;127:137-147 pubmed publisher
    ..Our results have developed the understanding of the European anchovy's reproductive toxicological risk and our approach could assist the comprehension of the complex dynamics of commercially relevant Teleost species. ..
  6. Hirsh D, Oppenheim D, Klass M. Development of the reproductive system of Caenorhabditis elegans. Dev Biol. 1976;49:200-19 pubmed
  7. Meyer Bahlburg H. Transsexualism ("gender identity disorder") - a CNS-limited form of intersexuality?. Adv Exp Med Biol. 2011;707:75-9 pubmed publisher
  8. Davis M, Montalbano A, Wood M, Schisa J. Biphasic adaptation to osmotic stress in the C. elegans germ line. Am J Physiol Cell Physiol. 2017;312:C741-C748 pubmed publisher
    ..We speculate that increased glycerol levels may function as a secondary osmoregulatory adaptive response in the germ line, following a primary response of RNP granule assembly. ..
  9. Curtis E, Grant R. MASCULINIZATION OF FEMALE PUPS BY PROGESTOGENS. J Am Vet Med Assoc. 1964;144:395-8 pubmed
  10. Dzimira S, Nizanski W, Madej J. Morphological analysis of testicles in cats with disorders of sex development. Pol J Vet Sci. 2017;20:123-131 pubmed publisher
    b>Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors...
  11. Sulston J, Albertson D, Thomson J. The Caenorhabditis elegans male: postembryonic development of nongonadal structures. Dev Biol. 1980;78:542-76 pubmed
  12. Hosono R, Mitsui Y, Sato Y, Aizawa S, Miwa J. Life span of the wild and mutant nematode Caenorhabditis elegans. Effects of sex, sterilization, and temperature. Exp Gerontol. 1982;17:163-72 pubmed
    ..The results suggest that the life span of C. elegans is rigidly determined by somatic cells and markedly influenced by the effects of temperature on the cells during the post-mitotic state. ..
  13. Hiort O, Ahmed S. Understanding differences and disorders of sex development. Foreword. Endocr Dev. 2014;27:VII-VIII pubmed
  14. Friedman D, Johnson T. A mutation in the age-1 gene in Caenorhabditis elegans lengthens life and reduces hermaphrodite fertility. Genetics. 1988;118:75-86 pubmed
    ..It is likely that the action of age-1 in lengthening life results not from eliminating a programmed aging function but rather from reduced hermaphrodite self-fertility or from some other unknown metabolic or physiologic alteration. ..
  15. Hage J, Bloem J, Suliman H. Review of the literature on techniques for phalloplasty with emphasis on the applicability in female-to-male transsexuals. J Urol. 1993;150:1093-8 pubmed
  16. Edwards J, Gallagher D, Prakash B. Urethral atresia with uroperitoneum in a newborn bovine freemartin. Vet Pathol. 1994;31:117-9 pubmed