A challenging case of primary amenorrhoea
Author:
Publisher
BMJ
Subject
General Medicine
Reference12 articles.
1. Primary amenorrhea: diagnosis and management;Marsh;Obstet Gynecol Surv,2014
2. Approach to a Child with Disorder of Sex Development
3. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic;Auchus;J Steroid Biochem Mol Biol,2017
4. Female phenotype with male karyotype: a clinical enigma;Sukumar;BMJ Case Rep,2017
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1. Genomic technologies and the diagnosis of 46, XY differences of sex development;Andrology;2024-07-31
2. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort;Endocrine;2024-07-17
3. 17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature;Journal of the Endocrine Society;2022-01-29
4. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency;Journal of Pediatric Endocrinology and Metabolism;2020-07-11
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