This study aimed to evaluate the experiences of patients who had a joint endocrinology consultation for transition to adult care at Marseille university hospitals between 2010 and 2020, focusing on patient follow-up, satisfaction, difficulties, and expectations.
A healthcare transition questionnaire was designed and administered to patients several years after transition to adult care.
One hundred and fifteen patients with rare endocrine disorders were included, with a mean age of 18.8 years at the transition consultation. Ninety-six percent (110/115) continued adult care after the first joint consultation, and 75% were still in follow-up when completing the questionnaire (mean follow-up, 4.5 years). Of the 81 respondents, 89% were satisfied with the transition, and 64% reported no difficulties. The most common difficulties were psychological, logistical, and medical. Fifty-three out of 74 respondents (72%) felt the transition occurred at the right time, 17 (24%) thought it was too early, and 4 (5%) felt it was too late. The main concern was the transmission of medical information between doctors. Suggestions for improvement included more joint consultations and personalized transition pathways.
In this group of rare endocrine disease patients, a transition pathway based on a joint pediatric-adult consultation was associated with high patient satisfaction and long-term follow-up rates. Patients' suggestions and reported difficulties highlight issues to be addressed and complementary strategies to develop.
Objective: Over 70% of breast cancers are hormone receptor positive and endocrine therapy (i.e., aromatase inhibitors and tamoxifen) is considered standard of care. Side effects from endocrine therapy can be significant for patients leading to early treatment discontinuation. As adjuvant endocrine therapy is typically recommended for 5-10 years, proactively addressing adverse effects is important to facilitate patient compliance. This review addresses the common adverse effects of adjuvant endocrine therapy in early-stage breast cancer and approaches to management including both pharmacologic and non-pharmacologic strategies.
Conclusion: There are multiple pharmacologic and non-pharmacologic management strategies available to alleviate side effects from endocrine therapy in patients with hormone receptor positive early stage breast cancer. Non-pharmacologic management strategies may be underutilized and should be considered early in the management of endocrine therapy adverse effects.
Lithium is an established adjunct therapy in the management of hyperthyroidism, particularly when conventional antithyroid therapy is contraindicated. This study aimed to investigate its efficacy and safety in patients with Graves' disease.
This retrospective observational study was conducted on 14 patients who received lithium due to intolerance or adverse reactions to thionamides. Paired-samples t-tests and linear mixed-effects models were used to assess changes in thyroid hormones, renal markers, urinary concentration and electrolytes after lithium therapy.
Lithium was initiated primarily due to allergic (35.7%) or hepatotoxic reactions (28,6%) to thionamides and 64.2% of patients ultimately underwent surgery or radioactive iodine therapy. Following a median lithium exposure of 37 days, significant reductions were observed in free T4 (2.58 ± 1.48 vs. 1.42 ± 1.06 ng/dL; p = 0.004) and free T3 (7.37 ± 2.70 vs. 4.88 ± 2.04 ng/L; p = 0.009). Urinary density decreased significantly (p = 0.016), suggesting early renal tubular effects. No significant changes were observed in serum sodium, potassium, or creatinine. Despite individual cases presenting hypercalcemia, there was no statistically significant change following lithium use (Δ = −0.12; p = 0.643; LMM F = 0.437, p = 0.730).
Lithium is effective in achieving rapid biochemical control of hyperthyroidism and may serve as a valuable bridging option for patients in whom antithyroid therapy is contraindicated or not tolerated. However, the potential for early renal concentration and calcium metabolism disturbances warrants vigilant monitoring.
Oral estrogens increase the levels of cortisol binding globulin (CBG) potentially affecting test results for adrenal insufficiency. The objective was to evaluate the influence of oral and transdermal estradiol on total plasma (p) and salivary cortisol in hypogonadal women with secondary adrenal insufficiency or at risk of developing adrenal insufficiency. Furthermore, to determine if estradiol treatment can lead to a change in the diagnosis of adrenal insufficiency based on a Synacthen-test.
Crossover study. Intervention: 12 weeks oral estradiol (2 mg), 12 weeks transdermal estradiol (100 µg/day), and 12 weeks without estradiol. After each intervention plasma total cortisol (pTC), salivary cortisol and CBG were measured before and after a 250 ug Synacthen-test (30 min) (normal response pTC > 420 nmol/L, overt adrenal insufficiency pTC < 250 nmol/L).
Seventeen hypopituitary patients, mean age 42 ± 6 years were included. 30-min pTC did not change significantly according to intervention (no estradiol 401 (interquartile range: 55–495), oral estradiol 440 (74–600), and transdermal estradiol 304 (48–492) nmol/L). Based on pTC no patients with overt adrenal insufficiency crossed the cut-off for adrenal insufficiency between interventions whereas three patients with borderline adrenal insufficiency (pTC 390–559 nmol/L) crossed the cut-off. CBG was higher on oral estradiol compared to no estradiol (p < 0.001) and transdermal estradiol (p = 0.017) whereas 30-min salivary cortisol was lower on oral estradiol compared to no estradiol (6.6 (1.6–23.0) vs. 10.4 (3.6–25.5 nmol/L) p = 0.04) and transdermal estradiol (p = 0.07).
In patients with overt adrenal insufficiency pTC was not influenced by estradiol supplementation. However, salivary cortisol decreased on oral estradiol concomitant with an increase in CBG levels. Our data may support the use of transdermal estradiol and the use of salivary cortisol when evaluating the adrenal axis.
Biochemical evaluation of 46, XY disorders of sex development(DSD) remains challenging due to overlapping profiles and limited validation in genetically proven cases. We studied the diagnostic accuracy of serum hormonal parameters in a well-characterized cohort.
Post-hoc hormonal analysis of a prospective study on genetics of 46, XY DSD(n = 165) was performed. Etiological diagnosis was primarily based on genotypic data. Patients without pathogenic genetic variants but with mullerian structures were classified as having gonadal dysgenesis(GD). Serum hormone levels during mini-pubertal, prepubertal, and pubertal stages were analyzed for diagnostic accuracy across etiological subgroups.
In GD, high serum FSH effectively distinguished others across all stages:mini puberty(AUC 0.896; sensitivity 75%, specificity 94.4% at 5.95 IU/L), prepuberty (AUC 0.860; sensitivity 60%, specificity 92.1% at 3.72 IU/L), and puberty (AUC 0.925; sensitivity 89.3%, specificity 90.6% at 38.15 IU/L). In17βHSD3D,(a gonadal steroidogenesis defect), prepubertal hCG-stimulated androstenedione(AUC = 0.929, cutoff 0.53 ng/ml, sensitivity 80%, specificity 80%) and Testosterone/Androstenedione(T/A) ratio(AUC = 0.898, cutoff 1.66, sensitivity 80%, specificity 94.5%) were diagnostic, while T/A cutoff 0.8 had 20% sensitivity. For SRD5A2,(testosterone metabolism defect), low pubertal LH(AUC = 0.908, cutoff 7.11 IU/L, sensitivity 75%, specificity 87.5%) was discriminatory, while prepubertal T/DHT cutoff 10 had 20% specificity. Androgen sensitivity index(ASI)(AUC = 0.972, cutoff 95.27, sensitivity 93.8%, specificity 93.3%) had highest diagnostic accuracy for androgen insensitivity syndrome(an androgen inaction) in pubertal stage.
This study identifies FSH, stimulated T/A (> 1.6), ASI, and LH as key discriminatory markers for etiological diagnosis in 46, XY DSD, while suggesting that traditional cutoffs like stimulated T/DHT > 10 and T/A < 0.8 may have limited utility emphasizing the need for rapid genetic analysis.
A relationship among hypothyroidism and lipid disorders is well established. However, current evidence and guidelines do not support the use of thyroid hormones (TH) in euthyroid patients with hyperlipidaemia as potential harms are considerable. This European survey investigated the use of TH in euthyroid patients with severe hypercholesterolemia as a complementary treatment.
Data were derived from the THESIS (Treatment of Hypothyroidism in Europe by Specialists) project that surveyed TH use. Univariable and multivariable analyses were used to explore associations.
Out of 17,232 invitations, 5695 (33.0%) valid responses were received, and of these, 328 (5.8%) stated that TH are indicated in euthyroid patients with severe hypercholesterolemia. Univariable analyses disclosed significant differences and associations: (a) more non-endocrinologists (8.9%) than endocrinologist (5.4%) used TH (p < 0.001), (b) the number of hypothyroid patients treated per year was inversely related to use of TH (p = 0.024), (c) members of international endocrine/thyroid societies were more likely to use TH than non-members (p < 0.001), (d) significant variations by country and geographical region (p < 0.001), and (e) inverse relationship between gross national income per capita (GNIPC) and TH use (p < 0.001). Multivariable analyses yielded significant associations between use of TH, and male gender, specialty and GNIPC (p < 0.001).
This study suggests that a small but noteworthy minority of European thyroid specialists may be using TH to treat of severe hypercholesterolemia in euthyroid patients. If confirmed, this finding highlights the importance of raising awareness among thyroid specialists, professional societies, and healthcare providers to ensure adherence to evidence-based practices.
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