caa a22 4500 475784499 CHVBK 20180406123654.0 cr unu---uuuuu 170329e20000801xx s 000 0 eng 10.1007/PL00008404 doi (NATIONALLICENCE)springer-10.1007/PL00008404 Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy [Elektronische Daten] [Kah Yin Loke, Kok Seng Poh Larry, Yung Seng Lee, Michael Peter, Stenvert L. S. Drop] X-linked congenital adrenal hypoplasia (CAH) presents classically with adrenal insufficiency within the first 6 months of life, as the fetal adrenal cortex progressively involutes. However, there is increasing recognition of delayed presentation after infancy with the need for accurate molecular diagnosis to avoid an erroneous diagnosis of other more common causes of adrenal insufficiency in childhood. We report our genetic studies of a pedigree with two affected boys presenting with late onset X-linked CAH, diagnosed by the presence of a known W171X mutation of the DAX-1 gene, in whom the mother was an obligate heterozygote. Unlike other causes of adrenal insufficiency, the significance of this diagnosis lies in the important association of hypogonadotropic hypogonadism, and the provision of accurate genetic counselling. Conclusion This study demonstrates that genetic analysis for X-linked congenital adrenal hypoplasia is essential to confirm the diagnosis in prepubertal patients presenting with adrenal insufficiency after infancy. Springer-Verlag Berlin Heidelberg, 2000 Key words Congenital adrenal hypoplasia nationallicence Prepubertal diagnosis nationallicence Loke Kah Yin Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut Larry Kok Seng Poh Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut Lee Yung Seng Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut Peter Michael Division of Paediatric Endocrinology, Department of Paediatrics, University of Kiel, Germany, DE aut Drop Stenvert L. S. Division of Paediatric Endocrinology, Sophia Children's Hospital, Erasmus University, Rotterdam, The Netherlands, NL aut https://doi.org/10.1007/PL00008404 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008404 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Loke Kah Yin Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut NATIONALLICENCE 700 1- Larry Kok Seng Poh Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut NATIONALLICENCE 700 1- Lee Yung Seng Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074 e-mail: paelky@nus.edu.sg Tel.: +65-7724112; Fax: +65-7797486, SG aut NATIONALLICENCE 700 1- Peter Michael Division of Paediatric Endocrinology, Department of Paediatrics, University of Kiel, Germany, DE aut NATIONALLICENCE 700 1- Drop Stenvert L. S. Division of Paediatric Endocrinology, Sophia Children's Hospital, Erasmus University, Rotterdam, The Netherlands, NL aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer