scholarly journals Bone mineral density, body composition and metabolic profiles in adult women with complete androgen insensitivity syndrome and removed gonads using oral or transdermal estrogens

2019 ◽  
Vol 181 (6) ◽  
pp. 711-718 ◽  
Author(s):  
Giulia Gava ◽  
Ilaria Mancini ◽  
Isabella Orsili ◽  
Silvano Bertelloni ◽  
Stefania Alvisi ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Body Composition ◽  
Bone Mineral ◽  
Androgen Insensitivity Syndrome ◽  
Adult Women ◽  
Healthy Controls ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Total Body

Objectives To assess bone health in adult women with complete androgen insensitivity syndrome (CAIS) and removed gonads compared with age-matched healthy controls. To evaluate the effects of transdermal oestradiol 2 mg or oral estradiol valerate 2 mg on bone, biochemical and clinical characteristics. Design Cohort study. Methods Bone, body composition and anthropometric parameters were assessed in 32 adult CAIS and 32 healthy controls. In 28 cases, CAIS evaluations of metabolic, bone and body composition were performed also after a maximum of 6 years of therapy. Results Lumbar, femoral and total body bone mineral density (BMD) were significantly lower in those with CAIS when compared with controls. The prevalence of vertebral osteoporosis and osteopenia was significantly higher in the CAIS group (P = 0.038, OR = 9.67, 95% CI: 1.13–82.83 and P = 0.012, OR= 3.85, 95% CI: 1.34–11.16, respectively). Prevalence of femoral osteopenia was significantly higher in the CAIS group (P = 0.0012, OR = 7.93, 95% CI: 2.26–27.9). During follow-up, lumbar BMD significantly increased suggesting a significant effect of treatment on BMD (P = 0.0016), while femoral and total body BMD did not show any significant change. Total body BMD values were positively associated to the duration and route of oestrogen administration and to serum estradiol levels. Transdermal administration of estrogens was associated with better total body BMD in comparison to oral administration. Conclusions Our results reinforce the importance of adequate hormonal treatment for women living with CAIS, suggesting a better effect from the transdermal route over the oral route.

scholarly journals Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Aaron Misakian ◽  
Michelle McLoughlin ◽  
Louisa C. Pyle ◽  
Thomas F. Kolon ◽  
Andrea Kelly ◽  
...  
Keyword(s):  
Body Composition ◽  
Bone Mineral ◽  
Lean Mass ◽  
Hormone Replacement ◽  
Androgen Insensitivity Syndrome ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Z Scores ◽  
Total Body

IntroductionOsteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by early gonadectomy. Body composition data have not been reported.MethodsSingle-center, retrospective study of CAIS adolescents who underwent dual-energy x-ray absorptiometry (DXA) (Hologic, Horizon A). Body composition is presented as lean and fat mass indices (LMI, FMI). Z-scores for lumbar spine areal BMD (LBMD), total body less head (TBLH), bone mineral content (BMC), LMI, and FMI were calculated using female normative data. Results are expressed as median and min, max.ResultsSix females with genetically confirmed CAIS were identified—one with intact gonads and five with history of gonadectomy at 2–11 months. In the subject with intact gonads, LBMD-Z and TBLH BMC-Z were −1.56 and −1.26, respectively, at age 16 years. Among those with gonadectomy, LBMD-Z was −1.8 (−3.59 to 0.49) at age 15.6 years (12–16.8) and decreased in all three subjects who had longitudinal follow-up despite hormone replacement therapy (HRT). Adherence to HRT was intermittent. LMI-Z and FMI-Z were 0.1 (−1.39 to 0.7) and 1.0 (0.22 to 1.49), respectively.ConclusionsThese limited data indicate that adolescents with CAIS have bone mass deficit. Further studies are needed to understand the extent of BMD abnormalities and the effect of gonadectomy, especially early in childhood, and to establish the optimal HRT regimen for bone accrual. Data on lean mass are reassuring.

scholarly journals Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads

2017 ◽  
Vol 11 (4) ◽  
pp. 182-189 ◽  
Author(s):  
Silvano Bertelloni ◽  
Maria C. Meriggiola ◽  
Elenora Dati ◽  
Antonio Balsamo ◽  
Giampiero I. Baroncelli
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Androgen Insensitivity Syndrome ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Tibolone effects on bone mineral density in a patient with complete androgen insensitivity syndrome, a one year follow–up

2020 ◽  
Author(s):  
Klarisse Danga Justiene Mia ◽  
Mark Henry Joven ◽  
Agoncillo Karen Elouie ◽  
Maria Julieta Victoriano-Germar ◽  
Gallagher John Chris
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Androgen Insensitivity Syndrome ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
One Year

scholarly journals Complete Androgen Insensitivity and Decreased Bone Mineral Density

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A778-A779
Author(s):  
Elizabeth M Bauer ◽  
Thanh Duc Hoang
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
The United States ◽  
Androgen Insensitivity Syndrome ◽  
United States Government ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Abstract Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development and primary amenorrhea results in an XY karyotype but female phenotype. Patients with this syndrome have lower bone mineral density (BMD) when compared to age matched controls. Clinical Case: A 44-year-old phenotypic woman with a history of complete androgen insensitivity syndrome presented for follow-up. She was previously on hormone replacement therapy (HRT) at various doses from the age of 12 until her early 30s when her therapy became sporadic. At age 40, she was prescribed transdermal estrogen therapy but discontinued soon after a dermatologic reaction and had not been on any form of hormone replacement since that time. Past medical history was significant for karyotype 46 XY, osteochondritis dissecans of right ankle and bilateral orchiectomy at age 4. She was single with one adopted child. Physical examination showed a height 75 inches, weight 244 lbs and a normal heart, lung, and abdominal examinations. Laboratory results showed estradiol 12.3pg/mL(7.63-42.6), total testosterone 12.0 ng/dL(7-40), FSH 109.6 mIU/mL(25.8-134.8), LH 42.49 mIU/mL(7.7-58.5), anti-mullerian hormone < 0.015 ng/mL (0.26-5.81), inhibin B <7.0 pg/mL(<17), androstenedione 48 ng/dL(41-262), dihydrotestosterone 2.7 ng/dL(4-22) and dehydroepiandrosterone sulfate 209 ng/dL(31-701). A baseline DXA showed low bone density for age with T-score (Z-score) of -2.0 (-1.6) lumbar-spine; -1.6 (-1.2) femoral neck, -1.1 (-0.8) total hip and -2.5 (-2.0) forearm. Discussion:CAIS is caused by a mutation in the androgen receptor (AR) located on the X-chromosome causing complete unresponsiveness to androgen hormone. Karyotype is XY but feminization occurs due to aromatization of androgen to estrogen. Gonadectomy for testicular malignancy prevention is controversial as testicular tumors in CAIS is generally low and gonadal resection subjects individuals to lifelong hormone replacement. These patients also have lower BMD when compared to female or male age matched controls. This is even more apparent in those with removed gonads. Low BMD is exacerbated by poor compliance, inadequate dose or inappropriate HRT. Whether or not fracture risk is higher has yet to be elucidated. Currently, there is no guideline on how to manage low BMD including osteoporosis in this patient population. It is important to counsel patients with CAIS on BMD loss and to ensure optimization of factors that affect bone health including compliance with HRT, vitamin D/calcium intake and exercise. The views expressed in this article are those of the authors and do not reflect the official policy of the Department of Army/Navy/Air Force, Department of Defense, or the United States Government.

Altered Bone Mineral Density in Patients with Complete Androgen Insensitivity Syndrome

1998 ◽  
Vol 50 (6) ◽  
pp. 309-314 ◽  
Author(s):  
Silvano Bertelloni ◽  
Giampiero I. Baroncelli ◽  
Giovanni Federico ◽  
Marco Cappa ◽  
Roberto Lala ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Androgen Insensitivity Syndrome ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Musculoskeletal profile of amateur combat athletes: body composition, muscular strength and striking power

2021 ◽  
Author(s):  
Luke Del Vecchio ◽  
Nattai Borges ◽  
Campbell MacGregor ◽  
Jarrod D. Meerkin ◽  
Mike Climstein
Keyword(s):  
Bone Mineral Density ◽  
Body Composition ◽  
Lumbar Spine ◽  
Muscle Mass ◽  
Bone Mineral ◽  
Lower Limb ◽  
Mineral Density ◽  
Lean Muscle Mass ◽  
Total Body ◽  
Physiological Tests

Background: Previous research highlighted positive musculoskeletal adaptations resulting from mechanical forces and loadings distinctive to impacts and movements with sports participation. However, little is known about these adaptations in combat athletes. The aim of this study was to quantify bone mineral density, lean muscle mass and punching and kicking power in amateur male combat athletes. Methods: Thirteen male combat athletes (lightweight and middleweight) volunteered all physiological tests including dual energy X-ray absorptiometry for bone mineral density (BMD) segmental body composition (lean muscle mass, LMM), muscle strength and striking power, sedentary controls (n = 15) were used for selected DXA outcome variables. Results: There were significant differences (p < 0.05) between combat groups for lumbar spine (+5.0%), dominant arm (+4.4%) BMD, and dominant and non-dominant leg LMM (+21.8% and +22.6%). Controls had significantly (p < 0.05) high adiposity (+36.8% relative), visceral adipose tissue (VAT) mass (+69.7%), VAT area (+69.5%), lower total body BMD (−8.4%) and lumbar spine BMD (−13.8%) than controls. No differences in lower limb BMD were seen in combat groups. Arm lean mass differences (dominant versus non-dominant) were significantly different between combat groups (p < 0.05, 4.2% versus 7.3%). There were no differences in punch/kick power (absolute or relative) between combat groups. 5RM strength (bench and squat) correlated significantly with upper limb striking power (r = 0.57), dominant and non-dominant leg BMD (r = 0.67, r = 0.70, respectively) and total body BMD (r = 0.59). Conclusion: BMD and LMM appear to be particularly important to discriminate between dominant and non-dominant upper limbs and less so for lower limb dominance in recreational combat athletes.

scholarly journals Association between Body Composition and Bone Mineral Density in Children and Adolescents: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 18 (22) ◽  
pp. 12126
Author(s):  
Kai-Li Deng ◽  
Wan-Yu Yang ◽  
Jin-Li Hou ◽  
Hui Li ◽  
Hao Feng ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Systematic Review ◽  
Body Composition ◽  
Children And Adolescents ◽  
Bone Mineral ◽  
Meta Analysis ◽  
Correlation Coefficients ◽  
Regression Coefficients ◽  
Mineral Density ◽  
Total Body

Background: Bone mass acquisition during growth is a major determinant of the risk of developing osteoporosis later in life. Body composition is an anthropometric determinant of bone mineral density (BMD) and significantly influences its development during childhood and adolescence. Objective: This study aimed to systematically examine the association between body composition and bone mineral density in children and adolescents. Methods: Observational studies addressing this association were identified from PubMed (MEDLINE), Embase, Scopus and the Cochrane Library (up to January 2021). The study populations consisted of healthy children and adolescents. The DerSimonian and Laird method was used to compute pooled estimates of effect size and the respective 95% confidence intervals for upper limbs, femoral neck (FN), lumbar spine (LS) and total body, respectively. Subgroup analyses were further performed based on age, sex and ethnicity. Results: Thirty-one published studies were eligible for inclusion in this systematic review and meta-analysis, including three longitudinal studies. The combined population from all the studies amounted to 21,393 (11,205 males and 10,188 females). The pooled estimates of the correlation coefficients for lean mass (LM) and BMD ranged from 0.53 to 0.74 (p < 0.050), and the pooled regression coefficients ranged from 0.23 to 0.79 for FN, LS and total body (p < 0.050). For fat mass (FM), the pooled correlation coefficients ranged from 0.10 to 0.50 (p < 0.050) and the pooled regression coefficient was only significant for FN BMD with a weak strength (pooled β = 0.07, p < 0.050). The pooled regression coefficients for body fat percentage (BF%) were between −0.54 and −0.04 (p < 0.050). The subgroup analysis revealed a stronger association in Asians than in Caucasians for LM and in males compared to females for BF% (p < 0.050). Conclusions: This systematic review and meta-analysis supports a positive association between LM and BMD. BF% appears to have a deleterious effect on bone acquisition in children and adolescents.

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