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1.
Endocr Pract ; 2024 May 21.
Article in English | MEDLINE | ID: mdl-38782202

ABSTRACT

Feminizing gender-affirming hormone therapy (GAHT) is the mainstay of treatment for many transgender and gender diverse (TGD) people. Injectable estradiol preparations are recommended by the World Professional Association for Transgender Health Standards of Care 8 and the Endocrine Society guidelines. Many patients prefer this route of administration, but few studies have rigorously assessed optimal dosing or route. We performed a scoping review of the available data on estradiol levels achieved with various dosages of estradiol injections in TGD adults on feminizing GAHT. We also report on testosterone suppression, route (i.e., subcutaneous vs. intramuscular), and type of injectable estradiol ester as well as timing of blood draw relative to the most recent dose, where available. The data we reviewed suggests that the current guidelines, which recommend starting doses 2-10 mg weekly or 5-30 mg every two weeks of estradiol cypionate or valerate, are too high and likely lead to patients having supraphysiologic levels across much of their injection cycle. The optimal starting dose for injectable estradiol remains unclear and whether it should differ for cypionate and valerate. Based on the data available, we suggest that clinicians start injectable estradiol valerate via subcutaneous or intramuscular injections at a dose ≤ 5 mg weekly and then titrate accordingly to keep levels within guideline recommended range. Future studies should assess timing of injections and subsequent levels more precisely across the injection cycle and between esters.

2.
J Clin Transl Endocrinol ; 36: 100348, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38756206

ABSTRACT

Introduction: Feminizing and masculinizing gender-affirming hormone therapy (fGAHT, mGAHT) results in bone mineral density (BMD) maintenance or improvement over time in transgender and gender diverse (TGD) adults. Mostly European TGD studies have explored GAHT's impact on BMD, but the association of BMI and BMD in TGD adults deserves further study. Objective: To determine whether GAHT duration or BMI are associated with BMD and Z-scores among TGD young adults. Methods: Cross-sectional study of nonsmoking TGD adults aged 18-40 years without prior gonadectomy or gonadotropin-releasing hormone agonist (GnRHa) therapy taking GAHT for > 1 year. BMD and Z-scores were collected from dual-energy x-ray absorptiometry. Associations between femoral neck, total hip, and lumbar spine BMDs and Z-scores and the predictors, GAHT duration and BMI, were estimated using linear regression. Results: Among 15 fGAHT and 15 mGAHT, mean BMIs were 27.6 +/- standard deviation (SD) 6.4 kg/m2 and 25.3 +/- 5.9 kg/m2, respectively. Both groups had mean BMDs and Z-scores within expected male and female reference ranges at all three sites. Higher BMI among mGAHT was associated with higher femoral neck and total hip BMDs (femoral neck: ß = 0.019 +/- standard error [SE] 0.007 g/cm2, total hip: ß = 0.017 +/- 0.006 g/cm2; both p < 0.05) and Z-scores using male and female references. GAHT duration was not associated with BMDs or Z-scores for either group. Conclusions: Z-scores in young, nonsmoking TGD adults taking GAHT for > 1 year, without prior gonadectomy or GnRHa, and with mean BMIs in the overweight range, were reassuringly within the expected ranges for age based on male and female references. Higher BMI, but not longer GAHT duration, was associated with higher femoral neck and total hip BMDs and Z-scores among mGAHT. Larger, prospective studies are needed to understand how body composition changes, normal or low BMIs, and gonadectomy affect bone density in TGD adults.

3.
J Endocr Soc ; 8(5): bvae045, 2024 Mar 12.
Article in English | MEDLINE | ID: mdl-38562129

ABSTRACT

Some transgender youth are treated with gonadotropin-releasing hormone agonists (GnRHa) followed by testosterone or estradiol, which may impact bone mineral density (BMD). This cross-sectional study of transgender youth (n = 56, aged 10.4-19.8 years, 53% assigned female at birth [AFAB]) utilized total body dual-energy x-ray absorptiometry to evaluate BMD Z-scores, and associations between GnRHa duration, body mass index (BMI), and BMD. Participants on GnRHa alone (n = 19, 14 assigned male at birth [AMAB], 5 AFAB) at the time of the study visit were 13.8 [12.8, 15.3] (median [IQR]) years old, had been on GnRHa for 10 [5.5, 19.5] months, and began GnRHa at age 12 [10.4, 12.6] years. Total body BMD Z-score for individuals on GnRHa monotherapy was -0.10 [-0.8, 0.4] (AFAB, female norms) and -0.65 [-1.4, 0.22] (AMAB, male norms). AFAB participants (n = 21) on testosterone were age 16.7 [15.9, 17.8] years, had been on testosterone for 11 [7.3, 14.5] months, and started testosterone at age 16 [14.8, 16.8] years; total body BMD Z-score -0.2 [-0.5, 0] (male norms) and 0.4 [-0.2, 0.7] (female norms). AMAB participants (n = 16) were age 16.2 [15.1, 17.4] years, had been on estradiol for 11 [5.6, 13.7] months, and started estradiol at age 16 [14.4, 16.7] years; total body BMD Z-score -0.4 [-1.1, 0.3] (male norms) and -0.2 [-0.7, 0.6] (female norms). BMD Z-score was negatively correlated with GnRHa duration (male norms: r = -0.5, P = .005; female norms: r = -0.4, P = .029) and positively correlated with BMI (male norms: r = 0.4, P = .003; female norms: r = 0.4, P = .004). In this cross-sectional cohort, total body BMD Z-scores were slightly below average, but lowest in the AMAB group on GnRHa monotherapy.

4.
Telemed J E Health ; 30(2): 430-437, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37499094

ABSTRACT

Purpose: Extension for Community Health Outcomes (ECHO) is a model of continuing medical education meant to connect academic medical center-based specialists with community providers to increase capacity in managing complex health conditions. The purpose of this study was to evaluate the effectiveness of a shortened "bootcamp" ECHO model in increasing participant competence with topics related to transgender and gender diverse (TGD) health care and the impact of "bootcamp" participation on enrollment in an ongoing ECHO series. Methods: An ongoing monthly ECHO series was instituted on topics of TGD health. After 2 years, the team implemented a four-session "bootcamp" for four consecutive weeks during March 2022 to introduce foundational topics for new participants who had joined or were considering joining the ongoing series. Qualitative and quantitative results were collected from self-reported pre-/post-surveys as well as from in-session quizzes. Results: There were 71 participants in the "bootcamp" including health care providers and support staff. Attendees reported a 10.3% increase (p = 0.02) in self-reported comfort providing care to transgender patients. Pre-/post-knowledge improved in areas of health inequities (50% vs. 74% correct pre/post), surgical requirements (33% vs. 74%), and effects of masculinizing (55% vs. 70%) and feminizing (64% vs. 89%) hormone therapy. Prescribing providers reported a significant change across four areas of practice competency. Among 71 "bootcamp" participants, 15 registered for the ongoing program. Conclusion: Use of a "bootcamp" highlights ways to increase participant comfort and knowledge in providing TGD health care in a shortened timeframe and recruit new participants to an ongoing ECHO curriculum.


Subject(s)
Sexual and Gender Minorities , Transgender Persons , Humans , Curriculum , Surveys and Questionnaires , Self Report
5.
J Clin Endocrinol Metab ; 109(2): 592-602, 2024 Jan 18.
Article in English | MEDLINE | ID: mdl-37683089

ABSTRACT

While endocrinologists continue to initiate gender-affirming hormone therapy (GAHT) in healthy transgender and gender diverse (TGD) patients, they may also encounter more TGD patients in their clinics with complex medical histories that influence the patient-provider shared decision-making process for initiating or continuing GAHT. The purpose of this Approach to the Patient article is to describe management considerations in 2 adults with thromboembolic disease and 2 adults with low bone mineral density in the setting of feminizing and masculinizing GAHT.


Subject(s)
Bone Diseases, Metabolic , Thromboembolism , Transgender Persons , Adult , Humans , Endocrinologists , Health Status
6.
Pain Med ; 25(2): 97-103, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-37819765

ABSTRACT

BACKGROUND: Morning serum cortisol level (mSCL) is a practical screening tool for hypothalamic-pituitary-adrenal (HPA) axis suppression and has been used to assess for duration of cortisol deficiency after epidural and peripheral glucocorticoid injections. More evidence is needed to establish the utility of mSCL in patients undergoing repeat injections with increasing cumulative glucocorticoid equivalent dose (CGED) that could place them at higher risk of HPA axis suppression. OBJECTIVES: To estimate the prevalence of spine injection candidates with significant HPA axis suppression (sigAS), to understand the correlation between 12 months of CGED and the presence of sigAS based on the timing of mSCL collection after the most recent glucocorticoid injection (within 6 weeks or between 6 weeks and 12 months), and to investigate demographic and clinical factors relating to sigAS. METHODS: Retrospective chart review of patients scheduled for spine injection who had an associated mSCL and documented histories of prior glucocorticoid injections. The steroid name, dose, type, and procedure location were recorded for each injection that occurred within 12 months before mSCL. CGED was calculated from standard glucocorticoid equivalent conversion factors. RESULTS: SigAS was present in 7.8% to 22% of the analysis cohorts. There was no association found between CGED and sigAS regardless of timing of mSCL. There was a trend toward lower mSCL and sigAS with increasing CGED. There were no significant relationships found between sigAS and overall demographic or clinical factors. CONCLUSIONS: A 3-fold reduction in the rate of sigAS was noted 6 weeks after the most recent steroid injection. Using mSCL provides a template to investigate the impact of CGED and the best timing for mSCL collection in order to define a more practical guideline to identify patients at higher risk of sigAS earlier and plan for future spine injections.


Subject(s)
Adrenal Insufficiency , Glucocorticoids , Humans , Hypothalamo-Hypophyseal System , Hydrocortisone , Adrenal Insufficiency/chemically induced , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/epidemiology , Retrospective Studies , Pituitary-Adrenal System
7.
JBMR Plus ; 7(12): e10814, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38130769

ABSTRACT

A 39-year-old female with a history of kidney transplant presented to the endocrinology clinic for osteoporosis evaluation after sustaining an ankle fracture from a fall. Her kidney transplant regimen (mycophenolate mofetil 360 mg twice a day, tacrolimus 0.5 mg every morning and 0.5-1 mg every evening, prednisone 5 mg/day) and baseline creatinine (1.0-1.2 mg/dL) had been stable for several years. After an appropriate secondary workup, she was started on abaloparatide 80 µg subcutaneous daily injections for osteoporosis. She had a good initial biochemical response to therapy. However, 5 months after abaloparatide initiation she was found to have a new elevation in serum creatinine (1.17 to 1.69 mg/dL) despite stable serum tacrolimus trough levels, and two new human leukocyte antigen (HLA) antibodies (anti-HLA antibodies detected to Cw7 and DP28). Abaloparatide was stopped due to concern for immunogenicity. There was no evidence of rejection on kidney biopsy and she was restabilized on her transplant regimen with a new baseline creatinine of 1.3-1.6 mg/dL. The patient was subsequently started on teriparatide 20 µg daily subcutaneous injections for 2 years with good biochemical response, significant improvement in bone mineral density, and stable transplant regimen without additional signs of immunogenicity or rejection. This is the first case report to raise concern about immunogenicity with abaloparatide in solid organ transplant recipients. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

8.
J Gen Intern Med ; 2023 Dec 15.
Article in English | MEDLINE | ID: mdl-38100010

ABSTRACT

BACKGROUND: The Fracture Liaison Service (FLS) care model, a care coordination program for patients experiencing a fragility fracture, is proven to improve management of patients with an osteoporotic fracture, but treatment initiation gaps persist. OBJECTIVE: We describe the evolution of a centralized FLS within a university-based healthcare system, including impact of adding clinical pharmacist consultation, and describe circumstances surrounding continued care gaps. DESIGN: Cohort analysis of osteoporosis medication initiation before FLS, after initial implementation, and after addition of pharmacist consultation. PATIENTS: Individuals aged 65 and older experiencing any fragility fracture between 7/1/16 and 3/31/22. INTERVENTION: A centralized team outreached eligible patients, ordered dual x-ray absorptiometry and laboratory tests as needed, and scheduled an osteoporosis-focused primary care appointment. Three years after FLS implementation, clinical pharmacist consultative review was added prior to the primary care visit. MAIN MEASURES: Initiation of osteoporosis pharmacologic therapy, completion of DXA, primary care follow-up rate, and description of circumstances where therapy was not initiated. KEY RESULTS: Of 1204 new fractures between 7/1/16 and 3/31/22, 315 patients were enrolled in one of two FLS phases, and 89 eligible historical controls were identified. Medication initiation rates went from 22/89 (25%) pre-FLS to 201/428 (47%) after-FLS phase 1 [POST1] (p<0.001) and to 106/187 (57%) after FLS phase 2 (POST2), when clinical pharmacist consultation was added (p=0.03 versus POST1). DXA was completed in 56/89 (67%) of pre-FLS patients, 364/428 (85%) POST1 patients (p<0.001 versus pre), and 163/187 (87%) POST2 (p< 0.001 versus PRE, p=0.59 versus POST1). Of 375 patients who did not initiate osteoporosis medication, more in the combined post-FLS cohorts attended a follow-up primary care appointment (233/308, 76% attended, versus pre-FLS 41/67, 61%, p=0.016). CONCLUSION: An FLS including centralized outreach and care coordination significantly improved patient follow-up, DXA, and medication initiation. Addition of de-centralized pharmacist consultation further improved medication initiation rates.

9.
Ther Adv Endocrinol Metab ; 14: 20420188231166494, 2023.
Article in English | MEDLINE | ID: mdl-37113210

ABSTRACT

As the transgender and gender diverse (TGD) population ages, more transfeminine and transmasculine individuals present to clinic to initiate or continue their gender-affirming care at older ages. Currently available guidelines on gender-affirming care are excellent resources for the provision of gender-affirming hormone therapy (GAHT), primary care, surgery, and mental health care but are limited in their scope as to whether recommendations require tailoring to older TGD adults. Data that inform guideline-recommended management considerations, while informative and increasingly evidence-based, mainly come from studies of younger TGD populations. Whether results from these studies, and therefore recommendations, can or should be extrapolated to aging TGD adults remains to be determined. In this perspective review, we acknowledge the lack of data in older TGD adults and discuss considerations for evaluating cardiovascular disease, hormone-sensitive cancers, bone health and cognitive health, gender-affirming surgery, and mental health in the older TGD population on GAHT.

10.
Arch Osteoporos ; 18(1): 38, 2023 03 01.
Article in English | MEDLINE | ID: mdl-36856881

ABSTRACT

Of patients prescribed systemic glucocorticoids, this study identifies the proportion prescribed osteoporosis pharmacologic treatment and associated characteristics. Overall, 13.2% of patients were prescribed osteoporosis pharmacologic treatment. Predictors included documented osteoporosis, past DXA or fracture, and provision of care within a department using embedded protocols, suggesting electronic medical record-based tools may be beneficial. PURPOSE: This study aimed to identify a cohort of patients at risk for glucocorticoid-induced osteoporosis based on their prescribed glucocorticoid regimens and to quantify the proportion who were also prescribed osteoporosis pharmacologic treatment. The secondary objective was to recognize patient characteristics associated with receiving such treatment. METHODS: A retrospective single-site cohort study used prescription order data to identify 7774 adults prescribed chronic glucocorticoids and measure the proportion also prescribed osteoporosis pharmacologic treatment. RESULTS: Of the total cohort, 1026/7774 (13.2%) had osteoporosis pharmacologic treatment prescribed. Of the subgroups prescribed a prednisone-equivalent of 5, 10, or 20 mg per day or more for at least 180 days, 584/4262 (13.7%), 153/1048 (14.6%), and 47/344 (13.7%) had treatment prescribed. Factors independently associated with osteoporosis pharmacologic treatment initiation included having osteoporosis or osteopenia on the problem list (OR = 4.45, 95% CI 3.70-5.34), history of dual-energy X-ray absorptiometry (DXA) screening (OR = 2.18, 95% CI 1.82-2.62), history of fracture (OR = 1.83, 95% CI 1.54-2.167), and longer duration of glucocorticoid use (OR = 1.33, 95% CI 1.10-1.59). The prescribing department was also a significant predictor of medication initiation, with cardiac transplant (OR = 6.04, 95% CI 3.97-9.17), oncology (OR = 4.11, OR 3.28-5.14), and lung transplant (OR = 1.51, 95% CI 1.08, 2.12) being positively correlated with this outcome, and nephrology (OR = 0.51, 95% CI 0.36-0.72) and kidney transplant (OR = 0.53, 95% CI 0.37, 0.75) being negatively correlated. CONCLUSION: Prescribing rate of osteoporosis pharmacologic treatment in patients using chronic glucocorticoids is low. Examining practices with higher prescribing rates may offer insight into improving protection against osteoporosis-induced fractures.


Subject(s)
Osteoporosis , Osteoporotic Fractures , Adult , Humans , Glucocorticoids , Cohort Studies , Retrospective Studies
11.
Postgrad Med ; 134(6): 541-551, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35635798

ABSTRACT

Reducing fracture risk is the objective of osteoporosis treatment. Bone-forming osteoporosis drugs increase bone mass, restore bone microarchitecture, and reduce fracture risk more effectively than oral bisphosphonates, providing strong justification for the use of these agents as the initial therapy or after anti-remodeling agents in patients at very high risk of fracture. At the end of a 12-to-24-month course of osteoanabolic therapy, transitioning to a potent anti-remodeling agent maintains and enhances the treatment benefit. This review describes the clinical applications of osteoanabolic therapy for osteoporosis.


Subject(s)
Bone Density Conservation Agents , Osteoporosis , Antibodies, Monoclonal/adverse effects , Bone Density , Bone Density Conservation Agents/pharmacology , Bone Density Conservation Agents/therapeutic use , Humans , Osteoporosis/drug therapy , Parathyroid Hormone-Related Protein/adverse effects , Teriparatide/pharmacology
12.
Arch Osteoporos ; 17(1): 18, 2022 01 20.
Article in English | MEDLINE | ID: mdl-35050418

ABSTRACT

Delays in denosumab dosing for osteoporosis treatment may lead to rapid bone loss or increased fractures. We assessed the frequency of delayed denosumab dosing before and after the implementation of a structured ordering plan with automated reminders and found that the rate of delayed denosumab dosing was cut in half. PURPOSE: The purpose of our study was to assess the frequency of delayed denosumab dosing before and after the implementation of a structured ordering plan with automated reminders. METHODS: We conducted a retrospective chart review of 720 adults with osteoporosis who received at least two denosumab doses within the UCHealth system before and after the plan went into effect. RESULTS: There was a significant reduction in delayed dosing from 24.0% (PRE) to 12.6% (POST) (p < 0.001) after implementation of the automated reminder. The fraction of delayed denosumab doses due to scheduling issues decreased significantly between PRE and POST time periods (16.4% vs. 3.3%, p = 0.011), while patient-related issues increased from 31.2% to 46.7% (p = 0.041). The rate of provider, medical, and other/unknown issues did not differ between the two time periods. When normalized to patient-years of follow-up, the number of fractures was the same for both groups at 0.016 fractures per patient-year. Fractures in both the PRE and POST groups were related to dosing delays, but the study was not powered to detect the differences in fracture rates between the groups. CONCLUSION: Electronic records with automatic reminders can reduce delayed dosing of denosumab and may lead to reductions in fractures associated with delays.


Subject(s)
Bone Density Conservation Agents , Osteoporosis, Postmenopausal , Osteoporosis , Adult , Bone Density , Denosumab/therapeutic use , Electronic Health Records , Female , Humans , Osteoporosis/drug therapy , Osteoporosis, Postmenopausal/drug therapy , Retrospective Studies
13.
J Clin Densitom ; 25(1): 3-19, 2022.
Article in English | MEDLINE | ID: mdl-34785102

ABSTRACT

The 2021 Virtual Santa Fe Bone Symposium was held August 5-8, with over 300 registered attendees from throughout the USA, and at least 18 other countries. This annual meeting focuses on applying advances in basic science and clinical research to the care of patients with osteoporosis and those with inherited and acquired disorders of bone metabolism. Participants represented a broad range of medical disciplines with an interest in skeletal diseases. These included physicians of many specialties and practice settings, fellows, advanced practice providers, fracture liaison service (FLS) coordinators, clinical researchers, and bone density technologists. There were lectures, case presentations, and panel discussions, all followed by interactive discussions. Breakout sessions included an FLS workshop, Bone Health TeleECHO workshop, special interest groups, meet-and-greet the faculty, and satellite symposia. The agenda covered topics of interest such as strategies for the use of osteoanabolic therapy, prevention of periprosthetic fractures, management of atypical femur fractures, what we know and don't know about vitamin D, advances in the use of dual-energy X-ray absorptiometry in the assessment of skeletal health, controversies and conundrums in osteoporosis care, skeletal health in transgender patients, management of patients with hypophosphatasia and hypophosphatemia, and treat-to-target approaches for managing patients with osteoporosis. The Proceedings of the 2021 Virtual Santa Fe Bone Symposium consists of highlights of each presentation with current strategies for optimizing the care of patients with skeletal disorders.


Subject(s)
Bone Density Conservation Agents , Bone Diseases, Metabolic , Osteoporosis , Osteoporotic Fractures , Absorptiometry, Photon , Bone Density , Bone Density Conservation Agents/therapeutic use , Bone Diseases, Metabolic/diagnostic imaging , Bone Diseases, Metabolic/therapy , Bone and Bones , Humans , Osteoporosis/drug therapy , Osteoporotic Fractures/prevention & control
14.
Transgend Health ; 7(3): 276-281, 2022 Jun.
Article in English | MEDLINE | ID: mdl-36643065

ABSTRACT

Transgender and gender diverse (TGD) adults face significant health care disparities stemming from systematic discrimination and stigma in health care. We created the UCHealth Integrated Transgender Program to provide culturally responsive and clinically competent care to TGD adults in Colorado. This article outlines the clinic model and summarizes results from a qualitative patient survey to assess patients' impressions and recommendations for improvement. A multidisciplinary integrated clinic is a feasible and desired step toward improving health care for the TGD population.

15.
J Gen Intern Med ; 36(5): 1380-1389, 2021 05.
Article in English | MEDLINE | ID: mdl-33547576

ABSTRACT

Despite the growing number of adult transgender and gender diverse (TGD) patients seeking health services, there are many unknowns regarding how routine screening recommendations should be applied to TGD persons receiving gender-affirming hormone therapy (GAHT). Patients taking GAHT may have disease risks that differ from what is expected based on their sex assigned at birth or affirmed gender identity. We discuss two patient cases, one transgender man and one transgender woman who present for routine medical care, to review several conditions that may be impacted by the hormones utilized in masculinizing and feminizing GAHT and for which screening recommendations are available for TGD adults: cardiovascular risk factors, osteoporosis, breast cancer, cervical cancer, and prostate cancer. We reviewed the TGD-specific screening recommendations from several major medical organizations and programs and found them to be largely based upon expert opinion due to a lack of evidence. The goal of this narrative review is to assist healthcare professionals in counseling and screening their TGD patients when and where appropriate. Not all TGD adults have the ability or need to receive routine medical care from a specialized TGD health clinic; therefore, it is essential for all healthcare professionals involved in routine and gender-affirming care to have knowledge about these conditions and screenings.


Subject(s)
Transgender Persons , Transsexualism , Adult , Female , Gender Identity , Hormones , Humans , Infant, Newborn , Male , Mass Screening
16.
Endocrinol Metab Clin North Am ; 50(1): 97-111, 2021 03.
Article in English | MEDLINE | ID: mdl-33518189

ABSTRACT

Evidence of clinical and/or biochemical androgen excess poses a unique differential in postmenopausal women. Some signs and symptoms of postmenopausal hyperandrogenism can be normal and attributed to the natural aging process. However, the causes of androgen excess in this group include both nontumorous and tumorous causes. Treatment of androgen excess may improve both quality of life and long-term metabolic outcomes.


Subject(s)
Hyperandrogenism , Female , Humans , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Postmenopause , Quality of Life , Testosterone
18.
Bone ; 133: 115224, 2020 04.
Article in English | MEDLINE | ID: mdl-31923705

ABSTRACT

Four heterozygous in-frame tandem duplications of different lengths in TNFRSF11A, the gene that encodes receptor activator of nuclear factor κB (RANK), constitutively activate RANK and lead to high turnover skeletal disease. Each duplication elongates the signal peptide of RANK. The 18-base pair (bp) duplication at position 84 (84dup18) causes familial expansile osteolysis (FEO), the 15-bp duplication at position 84 (84dup15) causes expansile skeletal hyperphosphatasia (ESH), the 12-bp duplication at position 90 (90dup12) causes panostotic expansile bone disease (PEBD), and the 27-bp duplication causes early-onset Paget's disease of bone (PDB2). The severity of the associated skeletal disease seems inversely related to the duplication's length. Additional 15- and 18-bp duplications of TNFRSF11A fit this pattern. Herein, we delineate the skeletal disease of a middle-aged man of Mexican descent who we found to harbor a novel 27-bp tandem duplication at position 77 (77dup27) of TNFRSF11A. His disorder shares features, particularly hand involvement, with the single Japanese (75dup27) and Chinese (78dup27) kindreds with PDB2 (PDB2Jpn and PDB2Chn, respectively). However, his distinct hearing loss developed later in adulthood compared to the other 27-bp families. He reported no morbidities during childhood, but in his late 20s developed unexplained tooth loss, low-trauma fractures, post-operative hypercalcemia, and painless enlargement of his fingers. Biochemical studies showed elevated serum alkaline phosphatase (ALP), bone-specific ALP, C-telopeptide, and osteocalcin consistent with rapid bone remodeling. Radiologic imaging revealed remarkably lucent bones with vertebral compression fractures, calvarial lucencies, and thinned long bone cortices. DXA showed extremely low bone mineral density. His disorder genetically and phenotypically fits best with PDB2 and can be called PDB2Mex.


Subject(s)
Fractures, Compression , Osteitis Deformans , Osteolysis , Spinal Fractures , Adult , Humans , Male , Middle Aged , Osteitis Deformans/genetics , RANK Ligand/genetics , Receptor Activator of Nuclear Factor-kappa B/genetics
19.
Perm J ; 232019.
Article in English | MEDLINE | ID: mdl-31702983

ABSTRACT

CONTEXT: Geriatric hip fractures are increasingly common and confer substantial morbidity and mortality. Fragmentation in geriatric hip fracture care remains a barrier to improved outcomes. OBJECTIVE: To evaluate the impact of a comprehensive geriatric hip fracture program on long-term mortality. DESIGN: We conducted a retrospective cohort study of patients aged 65 years and older admitted to our academic medical center between January 1, 2012, and March 31, 2016 with an acute fragility hip fracture. Mortality data were obtained for in-state residents from the state public health department. MAIN OUTCOME MEASURES: Mortality within 1 year of index admission and overall survival based on available follow-up data. RESULTS: We identified 243 index admissions during the study period, including 135 before and 108 after program implementation in October 2014. The postintervention cohort trended toward a lower unadjusted 1-year mortality rate compared with the preintervention cohort (15.7% vs 24.4%, p = 0.111), as well as lower adjusted mortality at 1 year (relative risk = 0.73, 95% confidence interval = 0.46-1.16, p = 0.18), although the differences were not statistically significant. The postintervention cohort had significantly higher overall survival than did the preintervention cohort (hazard ratio for death = 0.43, 95% confidence interval = 0.25-0.74, p = 0.002). CONCLUSION: Fixing fragmentation in geriatric hip fracture care such as through an orthogeriatric model is essential to improving overall survival for this patient population.


Subject(s)
Comprehensive Health Care/methods , Health Services for the Aged , Hip Fractures/therapy , Aged , Aged, 80 and over , Comprehensive Health Care/organization & administration , Health Services for the Aged/organization & administration , Hip Fractures/mortality , Humans , Male , Retrospective Studies , Survival Analysis
20.
Ther Adv Endocrinol Metab ; 10: 2042018819871166, 2019.
Article in English | MEDLINE | ID: mdl-31516689

ABSTRACT

Transgender (trans) women (TW) were assigned male at birth but have a female gender identity or gender expression. The literature on management and health outcomes of TW has grown recently with more publication of research. This has coincided with increasing awareness of gender diversity as communities around the world identify and address health disparities among trans people. In this narrative review, we aim to comprehensively summarize health considerations for TW and identify TW-related research areas that will provide answers to remaining unknowns surrounding TW's health. We cover up-to-date information on: (1) feminizing gender-affirming hormone therapy (GAHT); (2) benefits associated with GAHT, particularly quality of life, mental health, breast development and bone health; (3) potential risks associated with GAHT, including cardiovascular disease and infertility; and (4) other health considerations like HIV/AIDS, breast cancer, other tumours, voice therapy, dermatology, the brain and cognition, and aging. Although equally deserving of mention, feminizing gender-affirming surgery, paediatric and adolescent populations, and gender nonbinary individuals are beyond the scope of this review. While much of the data we discuss come from Europe, the creation of a United States transgender cohort has already contributed important retrospective data that are also summarized here. Much remains to be determined regarding health considerations for TW. Patients and providers will benefit from larger and longer prospective studies involving TW, particularly regarding the effects of aging, race and ethnicity, type of hormonal treatment (e.g. different oestrogens, anti-androgens) and routes of administration (e.g. oral, parenteral, transdermal) on all the topics we address.

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