ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2007
Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.European journal of endocrinology · 2022Guideline
- Bone density and skeletal turnover in complete androgen insensitivity syndrome.Journal of the Endocrine Society · 2026Article
- Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions.Journal of endocrinological investigation · 2026Article
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 2026Article
- Article
- Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α-Hydroxylase/17,20-Lyase Deficiency: A Retro-Prospective Study of a Large Patient Cohort.Clinical endocrinology · 2025Article
- Molecular mechanisms and treatment strategies for estrogen deficiency-related and glucocorticoid-induced osteoporosis: a comprehensive review.Inflammopharmacology · 2025Review
- Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.Diseases (Basel, Switzerland) · 2024Review
- Molecular genetics and general management of androgen insensitivity syndrome.Intractable & rare diseases research · 2023Review
- Complete androgen insensitivity syndrome: a case report and literature review.The Journal of international medical research · 2023Review
- Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea.Children (Basel, Switzerland) · 2022Article
- The challenges of androgen insensitivity syndrome.Archives of medical science : AMS · 2022Article
- Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome.BMJ case reports · 2021Article
- Special Considerations to Improve Clinical Outcomes in Patients with Osteoporosis Undergoing Spine Surgery.International journal of spine surgery · 2021Article
- Complete Androgen Insensitivity Syndrome: From Bench to Bed.International journal of molecular sciences · 2021Review
- Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome.Frontiers in endocrinology · 2021Article
- Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.Frontiers in endocrinology · 2021Article
- Review
- Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS).International journal of environmental research and public health · 2019Review
- Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome.Case reports in obstetrics and gynecology · 2017Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introduction and hypothesisAndrogen insensitivity syndrome (AIS) constitutes a natural model to study effects of androgens and estrogens on growth and bone density. We evaluated height and bone density in patients with AIS with mutations in the androgen receptor (AR) gene.
methodsA retrospective analysis was conducted of eight subjects with complete AIS (CAIS) and four with partial AIS (PAIS) submitted to gonadectomy followed by estrogen replacement, and three with PAIS who did not undergo gonadectomy. Standing height and bone mineral apparent density (BMAD) by DXA were measured and compared with male (z (m)) and female (z (f)) reference populations. The z-scores were compared with a value of zero using the one-sample t-test.
resultsFinal heights of patients with CAIS and PAIS were intermediate between those predicted for females and males. BMAD of the lumbar spine in CAIS and PAIS after gonadectomy and estrogen replacement (z (f) = - 1.56 +/- 1.04, P = 0.006, and z (m) = - 0.75 +/- 0.89, P = 0.04) indicated vertebral bone deficit, whereas BMAD at the femoral neck was normal. No patient reported fractures.
conclusionSubjects with AIS had mean final height intermediate between mean normal male and female, and decreased bone mineral density in the lumbar spine. These data suggest an important role for androgens in normal male growth and bone density not replaced by estrogens.
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