ESPEYB18 13. Global Health for the Paediatric Endocrinologist Endocrinology (11 abstracts)
13.11. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia
Savaş-Erdeve S , Aycan Z , Çetinkaya S , Ozturk AP , Bas F , Poyrazoglu S , Darendeliler F , Ozsu E , Sıklar Z , Demiral M , Unal E , Nuri Ozbek M , Gurbuz F , Yuksel B , Evliyaoglu O , Akyurek N & Berberoglu M
University of Health Sciences Turkey, Children’s Health and Disease Training and Research Hospital, Pediatric Endocrinology Departments in Ankara, Diyarbakır and Konya,Turkey. senaysavas@yahoo.com
J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216
– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cm
This paper discusses an important question that is not commonly raised in countries with a neonatal screening for congenital adrenal hyperplasia (CAH). Indeed, when CAH is diagnosed in the neonatal period, 46XX CAH babies are usually raised as females even when severe virilization is present. The situation is different when a disorder of sex development is not recognized at birth and when CAH diagnosis is performed later in life, as in the majority of the patients included in this study. On the one hand, long term studies of 46XX CAH raised as girls do not offer a reassuring picture of their future and poor outcomes are reported in terms of marriage, fertility and sexual life. In Turkey, similar to many countries in the world, being able to give birth is a key aspect of adult life for women and the consequences of infertility are usually much more severe than for men. Mete et al. (1) recently reported unhappiness, stress, financial difficulties and impaired social and family relationship in infertile women in Turkey. On the other hand, all 46XX CAH babies raised as males will be infertile and many will reach a short adult height. However, a literature review by Lee and Houk (2) concluded that extremely virilized 46,XX CAH patients who were reared as males demonstrated satisfactory levels of social and sexual function as adults when a healthy social support was present and that a male sex assignment should be considered in these circumstances. In the present study, Savaş-Erdeve et al. did no include quality of life data. There was also no mention of whether sex reassignment was ever considered. It will be important to address these questions in future studies.
References: 1. Mete S, Fata S and Alus Tokat M. Feelings, opinions and experiences of Turkish women with infertility: A qualitative study. Health Informatics Journal 2020, Vol. 26(1) 528–538. doi: 10.1177/1460458219839628.2. Lee PA and Houk CP. Review of outcome information in 46,XX Patients with congenital adrenal hyperplasia assigned/reared male: what does it say about gender assignment? Int J Pediatr Endocrinol. 2010; 2010: 982025. doi: 10.1155/2010/982025.
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ESPE Yearbook of Paediatric Endocrinology
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