ArticleJournal of endocrinological investigation2009
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
Article in Journal of endocrinological investigation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 47 citations in OpenAlex.
- Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.Biochemical genetics · 2026Article
- Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency.Frontiers in pediatrics · 2025Review
- Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 DifferentInternational journal of molecular sciences · 2022Review
- The use of quantitative ultrasound in a tertiary-level children hospital: role in the follow-up of chronically ill patients.Journal of ultrasound · 2022Article
- A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.Sexual medicine · 2022Article
- So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.Italian journal of pediatrics · 2022Article
- Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome.Journal of endocrinological investigation · 2022Article
- Article
- Mechanisms of Bone Impairment in Sickle Bone Disease.International journal of environmental research and public health · 2021Review
- 17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.Journal of endocrinological investigation · 2020Article
- Disorders of sex development: effect of molecular diagnostics.Nature reviews. Endocrinology · 2015Review
- A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.Oman medical journal · 2015Article
- Management of disorders of sex development.Nature reviews. Endocrinology · 2014Review
- Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?International journal of pediatric endocrinology · 2013Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17beta-hydroxysteroid-dehydrogenase type 3 (17beta-HSD3) deficiency in Italy.
settingPediatric Endocrine Departments, University Hospitals. PATIENTS: The cases of 5 Italian subjects affected by 17beta-HSD3 deficiency are presented in this study.
interventionsLaboratory and genetic assessment. Gonadectomy and female sex assignment (4 patients) or GnRH analog therapy to regress puberty and gender identity disorder (1 patient).
resultsPresentation lasted from pregnancy (pre-natal diagnosis of a 46,XY fetus with female external genitalia) to infancy (inguinal hernia containing testes/clitoromegaly) and adolescence (virilisation). All subjects but one (subject 1, Central-Northern Italy) were from small areas of Southern Italy. Endocrine data (baseline and/or stimulated testosterone/ Delta4-androstenedione ratio) were informative. Two girls were homozygous for 17beta-HSD3 gene mutations (G289S/G289S; R80W/R80W), while the others were compound heterozygous (IVS325+4 A>T/A203V; L212Q/M235V; R80W/A235E). Four patients were confirmed as females and were well-adjusted with assigned sex; gender identity disorder improved during treatment with GnRH analog in the last subject.
conclusions17betaHSD3 deficiency may present from pregnancy to puberty for different clinical issues. Albeit testosterone/Delta4-androstenedione ratio represents the most accurate endocrine marker to diagnose the disorder, hCGstimulation is mandatory in pre-puberty. Molecular analysis of 17beta-HSD3 gene should be performed to confirm the diagnosis. Temporary GnRH analog treatment may regress gender identity disorder and provide time to confirm or change the birth sex assignment. Female individuals seems to be compliant with their sex, providing that virilisation does not occur. In Italy, the disorder seems to be more prevalent in the Southern regions and shows genetic heterogeneity.
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