Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis

Persistence of foetal testicular features in patients with defective androgen signalling

(2023) Mostafa Al-Sharkawi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development

(2022) Nathalia Lisboa Gomes et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients

(2022) Catarina I. Gonçalves et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients

(2022) Hui Zhu et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Whole Exome Sequencing and Functional Characterization Increase Diagnostic Yield in Siblings with a 46, XY Difference of Sexual Development (DSD)

(2021) Sofia E. Luna et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

(2020) Leticia Ribeiro de Oliveira et al.   Endocrine Connections

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

(2019) Mitsuko Nakashima et al.   JOURNAL OF HUMAN GENETICS

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

(2019) Lowri A Hughes et al.   Endocrine Connections

Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation

(2019) Takashi Yazawa et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

(2017) Berenice B. Mendonca et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

(2015) Ahmed Khattab et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence

(2014) S. Bertelloni et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

A novelNR5A1variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

(2012) Joyce Y. Wu et al.   CLINICAL ENDOCRINOLOGY

‘Idiopathic’ partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?

(2011) Laura Gaspari et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Advantages and challenges of mass spectrometry assays for steroid hormones

(2010) Frank Z. Stanczyk et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Steroidogenesis in the Fetal Testis and Its Susceptibility to Disruption by Exogenous Compounds

(2009) Hayley M. Scott et al.   ENDOCRINE REVIEWS