Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants. [PDF]
Arch Endocrinol MetabBala A +8 more
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Pediatric endocrine disorders: a review of intra-abdominal findings and appropriate imaging. [PDF]
Pediatr RadiolShatadal A +3 more
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Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam. [PDF]
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Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]
Front PediatrLi N, Lu C, Gu HF, An X.
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Complete Androgen Insensitivity Syndrome in a Phenotypic Female: The Role of Frozen Section in Assisting Diagnosis. [PDF]
CureusBhatt VR +4 more
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Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review. [PDF]
Front Endocrinol (Lausanne)Zhang C +6 more
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Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations. [PDF]
Radiol Case RepBianchi S +4 more
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Plexiform Neurofibroma of the Vulva in a Patient With Neurofibromatosis Type 1. [PDF]
CureusAlkharusi S, Allamki AA, Almamari A.
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Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report. [PDF]
Am J Case RepAlmulhem B, AlJishi FM, Al-Qahtani M.
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Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review. [PDF]
BMC PediatrSadeghi A +4 more
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