ESPEYB17 6. Differences/Disorders of Sex Development and Transgender Medicine Differences/Disorders of Sex Development: Clinical Studies (3 abstracts)
6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis
Ljubicic ML , Jorgensen A , Acerini C , Andrade J , Balsamo A , Bertelloni S , Cools M , Cuccaro RT , Darendeliler F , Fluck CE , Grinspon RP , Maciel-Guerra A , Guran T , Hannema SE , Lucas-Herald AK , Hiort O , Holterhus PM , Lichiardopol C , Looijenga LHJ , Ortolano R , Riedl S , Ahmed SF & Juul A
To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 4366–81. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831
This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinical centers worldwide who participated in the international I-DSD registry and/or partners of the European Cooperation in Science and Technology (COST) network DSDnet. Compared to the non-genital diagnostic group, patients diagnosed earlier due to genital anomalies had poorer health outcomes, were less likely to show spontaneous puberty, received testosterone more often, were shorter and had more often genital surgery. Both groups had a similar prevalence of growth hormone treatment, cardiac or renal comorbidities, and cancer.
Histology of gonadal tissue was available in 44 patients across both groups: about one-half had bilateral testicular tissue; the other half had testicular tissue on one side and mostly a streak gonad on the other side. The prevalence of germ cell cancer was high, affecting 11% of patients. Of the 17 patients with available semen samples, three produced live spermatozoa and 14 had azoospermia. Almost one-half of patients had germ cells present histologically and up to one-quarter had focal spermatogenesis. These results highlight that clinicians should discuss fertility preservation with 46,X/46,XY mosaicism patients, as in vitro spermatogenesis may become an option in the future.
Another study from Brazil (1) described the clinical phenotype in patients with testicular dysgenesis, among which were 14 boys with 45,X/46,XY. They found differences in growth and fertility between 46,XY and 45,X/46,XY patients, but similar androgenization of external genitalia and similar gonadal characteristics.
It is important to use the term ‘mixed gonadal dysgenesis’, as referring to the sex chromosome karyotype may be misleading in the description of 45,X/46,XY patients.
Reference:
1. Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis. Andrade JGR, Fabbri-Scallet H, Dos Santos AP, Cools M, Werner R, Hiort O, de Mello MP, Guerra-Junior G, Maciel-Guerra AT. Sex Dev. 2019; 13: 171-7; DOI 10.1159/000504239, PMID 31816618. https://www.ncbi.nlm.nih.gov/pubmed/31816618
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ESPE Yearbook of Paediatric Endocrinology
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