Health problems of adolescent and adult patients with 21-hydroxylase deficiency

Tajima, Toshihiro

doi:10.1297/cpe.27.203

Cited by 4 publications

(6 citation statements)

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“…Treatment with excessively high dose of glucocorticoids must be avoided as it may lead to the development of diabetes and obesity, insulin resistance, and osteoporosis (1, 2, 20, 21). Glucocorticoid-induced hyperglycemia depends on the total glucocorticoid dose and duration of therapy and may occur also in <1 month (22).…”

Section: Discussionmentioning

confidence: 99%

The High Prevalence of Testicular Adrenal Rest Tumors in Adult Men With Congenital Adrenal Hyperplasia Is Correlated With ACTH Levels

Mazzilli¹,

Stigliano²,

Delfino³

et al. 2019

Front. Endocrinol.

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Introduction: The aims of this study were to determine the prevalence of testicular-adrenal rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH) and to evaluate the related ultrasound (US) features, hormonal profiles, and semen parameters. Therefore, we attempted to understand the potential impact of adrenocorticotropic hormone (ACTH) on the persistence or disappearance of T-ART. Methods: We conducted a longitudinal cohort study including patients with CAH who were undergoing treatment with cortisone and, when indicated, fludrocortisone replacement therapy. We performed andrological examinations, US of the testis, hormone profiling, and semen analysis. Results: Of the 25 patients (mean ± SD age, 32.2 ± 7.5 years), T-ARTs were detected by US in 14 (56.0%) patients. The mean ± SD diameter of the lesions was 13.2 ± 6.8 mm. Among 3 (21.4%) patients, the lesions were observed in one testis, whereas both testes were affected in the remaining 11 (78.6%) patients. The lesions were hypoechoic in 12 (85.7%) patients and hyperechoic in 2 (14.3%). Plasma ACTH and 17-hydroxyprogesterone (17-OHP) levels were significantly higher in patients with T-ART than in patients without lesions (319.4 ± 307.0 pg/ml and 12.4 ± 2.7 ng/ml vs. 33.5 ± 10.7 pg/ml and 8.2 ± 1.8 ng/ml, respectively; p < 0.01). The mean values of sperm concentration and motility were significantly lower in patients with T-ART than in patients without lesions (12.1 ± 12.4 × 10 6 cells/ml and 18.4 ± 11.1% vs. 41.5 ± 23.2 × 10 6 cells/ml and 30.8 ± 15.4%, respectively; p < 0.05). Logistic regression analysis showed ACTH level as a significant predictor of T-ART ( p < 0.05). In patients with T-ART, the dose of hydrocortisone was increased by ~25–30%, while the fludrocortisone treatment remained unchanged. After 6 months of steroid treatment, patients underwent US and hormonal evaluation. Disappearance and a reduction in T-ART were observed in 6 (42.9%) and 5 (35.7%) patients, respectively; a reduction in ACTH levels (from 319.4 ± 307.0 to 48.1 ± 5.1 pg/ml; p < 0.01) was reported. A significant correlation between ACTH level reduction and T-ART diameter reduction was observed ( p < 0.5; r = 0.55). Conclusions: T-ARTs were detected in 56% of patients with CAH and were associated with impaired semen parameters. However, these lesions are potentially reversible, as demonstrated by the disappearance/reduction after adjustment of cortisone therapy and by the reduction in plasma ACTH level. Our study supports the importance of periodic US evaluation and maintenance of plasma ACTH levels within the normal range in men with CAH.

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Section: Discussionmentioning

confidence: 99%

The High Prevalence of Testicular Adrenal Rest Tumors in Adult Men With Congenital Adrenal Hyperplasia Is Correlated With ACTH Levels

Mazzilli¹,

Stigliano²,

Delfino³

et al. 2019

Front. Endocrinol.

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“…The condition is similar in Japan, where newborn screening for 21-OHD started in January 1989 and one per 18,000 to 20,000 infants is found to have 21-OHD (18,21,22). Newborn screening promotes early recognition and treatment of infants with classic 21-OHD, consequently reducing morbidity and mortality (10,23).…”

Section: Healthcare Transition Of Patients With 21-hydroxylase Defici...mentioning

confidence: 94%

“…The third finding suggests that there is a need not only for the enlightenment of pediatric endocrinologists but also for interprofessional and multidisciplinary cooperation with gynecologists, reproductive or adult endocrinologists, orthopedists, and liaison psychiatry teams. Health problems associated with adult patients with 21-OHD and the prevalence of the problems in the cohort are summarized in Figure 1 (18,24).To prevent long-term complications including metabolic, gynecological, urological, orthopedic, and psychological problems and improve quality of life and social health, multifaceted and multidisciplinary support systems tailored to regional and individual characteristics are necessary (10,11,31). Medical staff of joint clinics with pediatric and adult healthcare have been suggested to optimize communication during the transition from pediatric to adult care (10), although these are not yet available for most patients worldwide (32).…”

Section: Healthcare Transition Of Patients With 21-hydroxylase Defici...mentioning

confidence: 99%

“…A large cohort study in the United Kingdom revealed a higher hazard ratio for all-cause mortality of 5.17 and a lower mean age at death (54.8 years) in patients with CAH than in the healthy control group ( 17 ). Health problems of patients with 21-OHD due to overtreatment or undertreatment, including metabolic and cardiovascular issues, fertility in both women and men, gonadal and adrenal tumors, and bone problems, may have subclinically developed in childhood or adolescence and should be managed in childhood from the aspect of adult healthcare ( 18 ); this requires detailed longitudinal patient data that are supported by seamless transition care from childhood to adulthood. However, recent cohort studies on patients with CAH in Europe revealed that many adult patients with CAH (10–50% depending on the study) did not receive follow-up care with an endocrine specialist after transition ( 19 , 20 ).…”

Section: Healthcare Transition Of Patients With 21-hydroxylase Defici...mentioning

confidence: 99%

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Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan

Takasawa

Kashimada

2022

Front. Pediatr.

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The transition of patients with childhood-onset chronic diseases from pediatric to adult healthcare systems has recently received significant attention. Since 2013, the Japan Pediatric Society developed working groups to formulate guidelines for transition of patients with childhood-onset chronic diseases from pediatric to their disease specialty. Herein, we report on the activities of the Japan Society of Pediatric Endocrinology (JSPE) and the current status of transition medicine for 21-hydroxylase deficiency (21-OHD) in Japan. The JSPE proposed roadmaps and checklists for transition and prepared surveys on the current status of healthcare transition for childhood-onset endocrine diseases. In Japan, newborn screening for 21-OHD started in January 1989; however, there is no nationwide registry-based longitudinal cohort study on 21-OHD from birth to adult. The current status and the whole picture of healthcare and health problems in adult patients with 21-OHD remain unclear. Thus, we conducted a questionnaire survey on JSPE members to clarify the current status of healthcare transition of 21-OHD and discuss future perspectives for the healthcare transition of patients with 21-OHD in Japan.

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“…Obesity associated with TART-induced hypogonadism became remarkable in his adulthood. Upregulated ACTH secretion due to insufficient treatment of 21-OHD causes ectopic adrenal cells to develop into TARTs, which compress normal tissue, thus leading to hypogonadism ( 1 ). Since late-onset hypogonadism is related to metabolic syndrome ( 2 ), clinicians should notice TART as a cause of obesity in adult 21-OHD patients.…”

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confidence: 99%