Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Reisch, Nicole; Arlt, Wiebke; Krone, Nils

doi:10.1159/000327794

Cited by 94 publications

(103 citation statements)

References 187 publications

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“…It has been suggested that CAH patients develop an unfavorable cardiovascular risk profile either because of the existence of hyperandrogenism in undertreated patients, or because of the iatrogenic hypercortisolism consequent to excess glucocorticoid (31,32). Hyperandrogenism, an independent risk factor for hyperinsulinism, and iatrogenic hypercortisolism could both contribute to hyperinsulinism and insulin resistance in these patients (33)(34)(35).…”

Section: Discussionmentioning

confidence: 99%

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

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Objective: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD). Subjects and methods: Thirty-one patients with classical 21-OHD who reached their FH in our Institution were evaluated in order to compare the Z score for final height (FHZ) with: (1) the target height, (2) the standard height for the population, and (3) the hydrocortisone treatment schedule. Results: The FHZ of -2.13 ± 1.11 had a significant negative correlation with the hydrocortisone doses used throughout the period of study. Patients who reached FH within the normal population range were those who received lower doses of hydrocortisone, as compared to those whose FH remained below -2 SDS. Conclusion: We conclude that careful treatment adjustments have a major influence on growth of children with CAH, and that the dose range for hydrocortisone replacement that does not lead to side effects is relatively narrow. The better height outcome was achieved in 21-OHD patients who received lower doses of hydrocortisone. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Keywords Congenital adrenal hyperplasia; steroid 21-hydroxylase; corticosteroids; hydrocortisone; body height RESUMO Objetivo: O objetivo do estudo foi a identificação de fatores que podem interferir na aquisição de altura final de pacientes com a deficiência de 21-hidroxilase (21OHD). Sujeitos e métodos: A altura final (escore Z: FHZ) de 31 pacientes com a forma clássica da 21OHD, acompanhados em nossa instituição, foi comparada com: (1) a altura alvo, (2) o padrão de referência para a população, e (3) a dose de hidrocortisona durante o acompanhamento. Resultados: Observou-se correlação negativa significativa entre o FHZ de -2,13 ± 1,11 e as doses de hidrocortisona utilizadas durante o período de estudo. Os pacientes que atingiram altura final dentro do padrão de referência para a população usaram doses mais baixas de hidrocortisona quando comparados àqueles que permaneceram abaixo de -2 DP. Conclusão: O cuidado nos ajustes das doses durante o tratamento da 21OHD tem grande influência sobre o crescimento das crianças. A faixa de variação da dose de reposição da hidrocortisona que não causa efeitos colaterais é relativamente estreita. O melhor resultado estatural foi observado nos pacientes com 21OHD tratados com doses mais baixas de hidrocortisona. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Descritores

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Section: Discussionmentioning

confidence: 99%

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

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“…This situation may be related to smaller numbers of patients, extensive range of age distribution, and heterogeneous glucocorticoid dose among groups. Since association between children and adolescents with CAH and osteoporosis risk is not clear, follow-up and treatment plans for bone health are not well defined yet (3,19).…”

Section: Introductionmentioning

confidence: 99%

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Demirel¹,

Kara²,

Tepe³

et al. 2014

Turk J Med Sci

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To determine the prevalence of and risk factors for decreased bone mineral density (BMD) and vitamin D deficiency in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods:This study was conducted on 30 girls and 22 boys with CAH (age range = 5-20 years) with median age of 12.0 years. BMD values of lumbar vertebras (L1-L4), which were determined by dual-energy X-ray absorptiometry, were used to calculate z-scores according to chronological age. A serum 25-hydroxyvitamin D level of <15 ng/mL was considered as indicative of vitamin D deficiency.Results: Mean vitamin D level was 14.8 ng/mL in the whole group. Twenty-seven (51.9%) children had vitamin D deficiency and it was more prevalent during pubertal ages. Vitamin D levels were found to be significantly lower in pubertal females. BMD z-score was below -1 standard deviation in 40.1% of cases with significantly higher mean age and lower vitamin D levels. Conclusion:Decreased BMD z-score and vitamin D deficiency were common in these children with CAH. Vitamin D levels were significantly lower in girls and pubertal children. Decreased BMD z-score was related to older age and lower levels of vitamin D. Periodical controls of vitamin D status and vitamin D supplementation were recommended in these cases, whenever required.

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“…We have found the description of the following feelings and conditions in the literature search: shame, loneliness, fear (irreversible physical and psychological), pain, suicidal attempts, suicide, the feeling to be living with a secret, suspicion, and embarrassment (11)(12)(13)(14)(15)(16)(17). Desire of changing sex when adolescent and/or adult (gender dysphoria), depression, social phobia, social inhibitions, anxiety disorders, and panic disorders have also been described (11)(12)(13)(14)(15)(16)(17).…”

Section: Clinical Effects Of This Modelmentioning

confidence: 99%

“…Desire of changing sex when adolescent and/or adult (gender dysphoria), depression, social phobia, social inhibitions, anxiety disorders, and panic disorders have also been described (11)(12)(13)(14)(15)(16)(17). Besides these consequences, we find those which are observed and emphasized in specialized DSD clinics, such as: communication difficulties among physician, patient and family, silence pact, apparent aloofness towards medical appointments, difficult adherence to or discontinuation of treatment, etc.…”

Section: Clinical Effects Of This Modelmentioning

confidence: 99%

Management framework paradigms for disorders of sex development

Telles-Silveira

Knobloch

Kater

2015

Arch. Endocrinol. Metab.

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Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture" . In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families. Arch Endocrinol Metab. 2015;59(5):383-90

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Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Cited by 94 publications

References 187 publications

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Management framework paradigms for disorders of sex development

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