Deficiency of 17,20‐lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: Case report

A 13‐year‐old girl was referred because of progressive abdominal pain caused by ovarian torsion and giant ovarian cysts. Secondary sexual characteristics were absent. Hormone analysis revealed markedly elevated serum levels of progesterone and 17‐hydroxyprogesterone in combination with very low peri...

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Veröffentlicht in:	Human reproduction (Oxford) 2004-02, Vol.19 (2), p.456-459
Hauptverfasser:	ten Kate‐Booij, Marianne J., Cobbaert, Christa, Koper, Jan W., de Jong, Frank H.
Format:	Artikel
Sprache:	eng
Schlagworte:	17-alpha-Hydroxyprogesterone - blood 20‐lyase deficiency/ovarian cysts/P450c17 Abdominal Pain Adolescent Alleles Androstenedione - blood Biological and medical sciences Dehydroepiandrosterone - blood Disorders of Sex Development - enzymology Disorders of Sex Development - genetics Embryology: invertebrates and vertebrates. Teratology Estrogens - blood Exons Female Follicle Stimulating Hormone - blood Fundamental and applied biological sciences. Psychology Gene Deletion gene mutation/17 Heterozygote Humans Luteinizing Hormone - blood Male Mutation Ovarian Cysts - diagnosis Ovarian Cysts - enzymology Phenotype Progesterone - blood Steroid 17-alpha-Hydroxylase - genetics
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