Puberty

Puberty

Most individuals with CdLS will go through puberty, though puberty is usually mildly delayed. The average age of puberty onset in CdLS is 15 years of age in boys and 13 years of age in girls (²). A small number of females with CdLS will never menstruate. For those who do menstruate, the menstrual cycle will often be irregular. Most girls with CdLS will develop breast tissue.

Some females with CdLS may have a bicornuate (heart-shaped) womb. There are no extra difficulties with conception or in early pregnancy for women with a bicornuate womb, however, there is a slightly higher risk of miscarriage and premature birth.

Boys with CdLS may have undescended testicles, a small penis and/or hypospadias (where the opening through which urine passes is not at the tip of the penis) (²). Only a small number of boys with CdLS have hypospadias. Undescended testicles are very common in males with CdLS. There are risks associated with not having corrective surgery, including a heightened risk of developing testicular cancer, hernias, and twisting of the testicle. Usually there is no lowering of voice at puberty for boys with CdLS (²).

Teenagers with CdLS can become overweight or develop obesity. This is often related to the consumption of high calorie food in combination with limited physical activity (²). Regular evaluation of weight is important.

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul 2018

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09