An unusual case of 17-hydroxylase deficiency presenting with short stature
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Published:2024-07
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ISSN:0929-693X
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Container-title:Archives de Pédiatrie
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language:en
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Short-container-title:Archives de Pédiatrie
Author:
Çömlek Fatma ÖzgüçORCID,
Gümüş UğurORCID
Reference9 articles.
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2. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation;Kim;Metabolism,2014
3. Defects of steroidogenesis;Biason-Lauber;J Endocrinol Invest,2010
4. Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman;Mula-Abed;Oman Med J,2014
5. The broad phenotypic spectrum of 17α hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series;Sun;Eur J Endocrinol,2021