Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

Nygren, Ulrika; Nyström, Helena Filipsson; Falhammar, Henrik; Hagenfeldt, Kerstin; Nordenskjöld, Agneta; Södersten, Maria

doi:10.1111/cen.12226

Cited by 18 publications

(15 citation statements)

References 38 publications

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“…More important though is that genetic analysis of CYP11B1 mutations confirms the diagnosis and is essential in genetic counseling similar to 21OHD [1,65]. In 21OHD, there have recently been speculations that the clinical course may be predicted and serious consequences may be prevented even in adult life by knowing the genotype [65], based on several studies from the same group [25,[68][69][70][71][72][73][74][75][76][77][78][79][80]. These aspects of different genotypes have not yet been explored in 11βOHD.…”

Section: Molecular Geneticsmentioning

confidence: 99%

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

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Section: Molecular Geneticsmentioning

confidence: 99%

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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“…Voice problems were related to a late CAH diagnosis and poor compliance; however, there were a few patients who had a normal voice despite compliance issues and a late diagnosis [189]. Among women with CAH, 7 % had voice problems related to virilization, but, according to the patients' own ratings of dark voice, 45 % were affected [190]. Half of the women with NCAH had a subjectively dark voice [190].…”

Section: Clinical Outcome Of Vocal Pathology In Femalesmentioning

confidence: 99%

“…Among women with CAH, 7 % had voice problems related to virilization, but, according to the patients' own ratings of dark voice, 45 % were affected [190]. Half of the women with NCAH had a subjectively dark voice [190]. Long periods of high androgen levels must be avoided, also in NCAH, to prevent irreversible voice changes and a referral for voice assessment should be considered.…”

Section: Clinical Outcome Of Vocal Pathology In Femalesmentioning

confidence: 99%

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

2015

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Nonclassic congenital adrenal hyperplasia (NCAH) is one of the most frequent autosomal recessive disorders in man with a prevalence ranging from 0.1 % in Caucasians up to a few percent in certain ethnic groups. Most cases are never diagnosed due to very mild symptoms, misdiagnosing as polycystic ovary syndrome, or ignorance. In contrast to classic CAH, patients with NCAH present with mild partial cortisol insufficiency and hyperandrogenism and will survive without any treatment. Undiagnosed NCAH may result in infertility, miscarriages, oligomenorrhea, hirsutism, acne, premature pubarche, testicular adrenal rest tumors, adrenal tumors, and voice problems among other symptoms. A baseline measurement of 17-hydroxyprogesterone can be used for diagnosis, but the ACTH stimulation test with measurement of 17-hydroxyprogesterone is regarded as the golden standard. The diagnosis can be verified by CYP21A2 mutation analysis. Treatment is symptomatic and usually with glucocorticoids alone. The lowest possible glucocorticoid dose should be used. Long-term treatment with glucocorticoids will improve the symptoms but will also result in iatrogenic cortisol insufficiency and may also lead to long-term complications such as obesity, insulin resistance, hypertension, osteoporosis, and fractures. Although the complications seen in NCAH patients have been assumed to be related to the glucocorticoid treatment, some may, in fact, be associated with prolonged hyperandrogenism. Different risk factors and negative consequences should be monitored regularly in an attempt to improve the clinical outcome. More research is needed in this relatively common disorder.

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“…We have recently studied voice characteristics in women diagnosed with CAH divided according to severity in the subgroups: salt‐wasting (SW), simple virilizing (SV) and nonclassic (NC). We found that a prolonged period of under‐treatment, either due to late diagnosis or suboptimal treatment, increases the risk of severe virilization of the voice, which may concern the individual and cause distress . We have also shown that the voice virilization in women probably is due to an androgen effect on the thyroarytenoid muscle in the vocal folds, as observed with MRI examination .…”

Section: Introductionmentioning

confidence: 53%

“…Unfortunately, there are no population‐based studies that examine how vocally healthy males and females would rate satisfaction with the voice or Adam's apple. A small control group of healthy women (n = 43) gave a mean value of 81 on a 100 mm VAS (with the end‐points 0 = not satisfied and 100 = completely satisfied) when asked the question ‘Are you satisfied with your voice?’ . The BIS can be used for transmen (female sex assigned at birth, male gender identity) and transwomen (male sex assigned at birth, female gender identity).…”

Section: Discussionmentioning

confidence: 99%

Voice dissatisfaction in individuals with a disorder of sex development

Nygren

Södersten

Thyen

et al. 2019

Clinical Endocrinology

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Agneta Nordenskjöld 5,6 | on behalf of the dsd-LIFE GroupThis is an open access article under the terms of the Creat ive Commo ns Attri bution-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. AbstractObjective: Changes of sex hormone levels in disorders of sex development (DSD) can affect the body, including the vocal folds, during and after foetal development.The voice is a gender characteristic that may also be affected. There is a lack of knowledge on voice alteration in DSD. To explore this in different forms of DSD, we describe the prevalence of voice alterations and investigate patient satisfaction with voice. Design:The study is part of dsd-LIFE, a multicentre cross-sectional clinical evaluation project assessing the long-term outcomes of surgical, hormonal and psychological interventions in individuals with DSD. Patients:The study included 1040 individuals with different forms of DSD, that is Turner and Klinefelter syndromes, different degrees of gonadal dysgenesis and 46 XY DSD. Participants were recruited through patient advocacy groups and health care.Measurements: Satisfaction with voice, Adam's apple, if patient's self-identified gender was mistaken on the phone leading to distress. Results:A vast majority of the participants with DSD (between 58.3% to 82% in various groups) were not satisfied with their voice, and approximately 15% (n = 147) were mistaken on the phone in accordance with self-identified gender. For 102 participants, this caused distress. Conclusions:We have identified that voice problems are a cause of distress in all forms of DSD. This result needs to be confirmed and compared with controls. We recommend that evaluation of the voice should be included in future international guidelines for management of DSD.

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Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

Abstract: Subjective voice problems due to voice virilization may occur in women with CAH. This further emphasizes the importance of avoiding long periods of increased androgen levels to prevent irreversible voice changes. For these patients, we recommend referral to voice assessment and treatment.

Cited by 18 publications

References 38 publications

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

Voice dissatisfaction in individuals with a disorder of sex development

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