The Experts below are selected from a list of 3009 Experts worldwide ranked by ideXlab platform
Gerard S Conway - One of the best experts on this subject based on the ideXlab platform.
-
bone mineral density in complete androgen insensitivity syndrome and the timing of Gonadectomy
Clinical Endocrinology, 2017Co-Authors: Thomas F J King, Winnie Z M Wat, Gerard S ConwayAbstract:Objective Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of Gonadectomy is not known. We aimed to assess the relationship between age of Gonadectomy and BMD in women with CAIS. Design Retrospective analysis of pre- and post-Gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. Patients One hundred and thirteen women with CAIS. Measurements Dual-energy x-ray absorptiometry (DXA) before and after Gonadectomy; and pre-Gonadectomy hormone profile. Results Mean BMD was reduced (95%CI); T-score -1.34 (-1.55 to -1.13; P < 0.001) at the lumbar spine and -0.3 (-0.49 to -0.12; P = 0.001) at the hip. There was no relationship between age of Gonadectomy and BMD. Thirty-two subjects had BMD measured before or within 2 years of Gonadectomy, and mean BMD was reduced (95%CI) at the lumbar spine; T-score: -1.05 (-1.54 to -0.57; P < 0.001), but was normal at the hip; T-score -0.04 (-0.35 to 0.28; P = 0.8). There was no relationship between BMD and history of hernia, testosterone, oestradiol or follicle stimulating hormone levels. Twelve subjects had DXA both before and after Gonadectomy, and after 4.3 (1.7 to 12.8) years there was no change in BMD. Conclusions We found reduced BMD at the spine and hip in subjects with CAIS. We found no relationship between age of Gonadectomy and BMD, and we also found no drop in BMD in subjects followed up after Gonadectomy. This article is protected by copyright. All rights reserved.
-
timing of Gonadectomy in adult women with complete androgen insensitivity syndrome cais patient preferences and clinical evidence
Clinical Endocrinology, 2012Co-Authors: Rebecca Deans, Lihmei Liao, Gerard S ConwayAbstract:OBJECTIVE: Adult women with complete androgen insensitivity syndrome (CAIS) are increasingly likely to defer or decline Gonadectomy despite counselling about malignancy risk. The objectives of this study were to review the evidence on the risk of gonadal malignancy in adult women with CAIS and to explore women's reasons for deferring Gonadectomy. STUDY DESIGN: A case series and literature review. PATIENTS: Sixteen women with CAIS over the age of 18 years who have elected to defer Gonadectomy. RESULTS: Sixty-two relevant papers were identified. Of these, 14 confirmed that tumours had been reported in 98 adults. Taking into account the limitations of combining historic case series, this review estimates a risk of gonadal malignancy of 14% (range 0% and 22%) in adults with CAIS. The most common reasons women offered for deferring Gonadectomy included inconvenience of surgery, concern about surgical risk and reluctance to take hormone replacement therapy. CONCLUSIONS: Perceived benefits for retaining gonads in women with CAIS are prompting more women to keep their gonads in situ. An accurate estimate for adult malignancy risk is unavailable, and the risks currently quoted may be falsely reassuring.
Ivo J. P. Arnhold - One of the best experts on this subject based on the ideXlab platform.
-
height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene
Osteoporosis International, 2007Co-Authors: Debora Lucia Seguro Danilovic, Elaine Maria Frade Costa, Berenice B Mendonca, Pedro Henrique Silveira Correa, Karla F S Melo, Ivo J. P. ArnholdAbstract:Androgen 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. A 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. Final 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. Subjects 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.
Jennifer S Gell - One of the best experts on this subject based on the ideXlab platform.
-
case of sisters with complete androgen insensitivity syndrome and discordant mullerian remnants
Fertility and Sterility, 2009Co-Authors: Jennifer L Nichols, Eric J Bieber, Jennifer S GellAbstract:Objective Presentation of complete androgen insensitivity in two members of the same family with differing residual Mullerian tissue. Design Case report. Setting Rural hospital setting. Patient(s) Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified. Intervention(s) Sister 1: bilateral Gonadectomy and hysterectomy. Sister 2: bilateral Gonadectomy. Main Outcome Measure(s) Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members. Result(s) Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma. Conclusion(s) This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Mullerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Mullerian tissue.
Olaf Hiort - One of the best experts on this subject based on the ideXlab platform.
-
Gonadectomy in complete androgen insensitivity syndrome why and when
Sexual Development, 2017Co-Authors: Ulla Dohnert, Lutz Wunsch, Olaf HiortAbstract:Prophylactic Gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of Gonadectomy has been postponed to allow spontaneous puberty and involvement of the patients in important decisions affecting their body and health. Gonadectomy after puberty is still discussed controversially. There are difficulties in determining the absolute malignancy risk for individuals with CAIS, difficulties with hormone therapy, and lack of studies supporting different protocols. In contrast, endogenous hormone profiles show very specific features that influence bone health, psychosocial well-being, and many other aspects which still have to be investigated. For women with CAIS who wish to keep their gonads, we propose a biannual screening program which has to be evaluated in a prospective multi-center trial.
Debora Lucia Seguro Danilovic - One of the best experts on this subject based on the ideXlab platform.
-
height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene
Osteoporosis International, 2007Co-Authors: Debora Lucia Seguro Danilovic, Elaine Maria Frade Costa, Berenice B Mendonca, Pedro Henrique Silveira Correa, Karla F S Melo, Ivo J. P. ArnholdAbstract:Androgen 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. A 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. Final 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. Subjects 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.