Is fertility preservation justified in male patients with congenital adrenal hyperplasia (CAH)?

2018 ◽  
Author(s):  
Taous Chougar ◽  
Veronique Drouineaud
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Fertility Preservation ◽  
Adrenal Hyperplasia ◽  
Male Patients

scholarly journals Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency

2019 ◽  
Vol 3 (8) ◽  
pp. 1445-1456 ◽  
Author(s):  
Katharina Gehrmann ◽  
Manon Engels ◽  
Elena Bennecke ◽  
Claire Bouvattier ◽  
Henrik Falhammar ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Sexual Activity ◽  
Sexual Problems ◽  
Psychological Problems ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Psychological Issues ◽  
Key Factor ◽  
Male Patients ◽  
21 Hydroxylase Deficiency

Abstract Purpose Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered. Patients One of the largest European male cohorts of patients with CAH in which sexuality in male patients with CAH was assessed. Methods Sexuality was evaluated in 91 sexually active male patients with CAH using questionnaires investigating sexual orientation, age at sexual initiation, sexual activity, satisfaction with sex life, and sexual problems, such as fears or dislike of sexual activity, lack or excessive sexual desire, difficulties getting aroused or reaching an orgasm, premature ejaculation, and no or incomplete erection. Results Sexuality in male patients with CAH was similar to European reference populations. If sexuality problems were present, they were less frequently reported by the most severely affected CAH males. Adducing a holistic perspective, sexual problems showed substantial association to psychological problems, such as anxiety and depression. Conclusions Sexuality in male patients with CAH in general was unaffected and sexuality problems seemed to be associated in particular with psychological problems. Because sexual health is a key factor of general health, we recommend that sexuality as well as psychological issues explicitly should be addressed in health care of patients with a CAH diagnosis, independent of sex.

Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature

2019 ◽  
Vol 32 (3) ◽  
pp. 259-267 ◽  
Author(s):  
Thomas Breil ◽  
Vira Yakovenko ◽  
Ioana Inta ◽  
Daniela Choukair ◽  
Daniela Klose ◽  
...  
Keyword(s):  
Arterial Hypertension ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Tall Stature ◽  
Adrenal Hyperplasia ◽  
Single Centre ◽  
Hydroxylase Deficiency ◽  
Precocious Pseudopuberty ◽  
Male Patients ◽  
21 Hydroxylase Deficiency

Abstract Background 11β-hydroxylase deficiency (11βOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5–8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11βOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11βOHD. Methods Clinical, biochemical and radiological data of patients with 11βOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11βOHD were identified (0.1–13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA–CA: 5.5 years, range 1.5–9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11βOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retrospectively. Testicular adrenal rest tumours (TARTs) were detected in three patients at 3.7 years, 11 years and 14.4 years. Conclusion The diagnosis of CAH due to 11βOHD is delayed and should be suspected in children with arterial hypertension, tall stature and precocious pseudopuberty. Patients may develop TARTs as early as infancy. 11βOHD should be included in newborn screening programmes, at least in newborns of index families, to allow early diagnosis and the start of treatment to reduce morbidity.

Congenital adrenal hyperplasia and acne in male patients

2003 ◽  
Vol 148 (6) ◽  
pp. 1263-1266 ◽  
Author(s):  
K. Degitz ◽  
M. Placzek ◽  
B. Arnold ◽  
H. Schmidt ◽  
G. Plewig
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Male Patients

scholarly journals Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia: A Case Series

2020 ◽  
Author(s):  
Didem Yıldırımçakar ◽  
Selda Ayça Altıncık ◽  
Murat Öcal ◽  
Bayram Özhan
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tumor Progression ◽  
Precocious Puberty ◽  
Clinical Characteristics ◽  
Adrenal Hyperplasia ◽  
Laboratory Findings ◽  
Testicular Adrenal Rest Tumors ◽  
Male Patients ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

INTRODUCTION: Testicular adrenal rest tumors (TARTs) are the main etiology of infertility in congenital adrenal hyperplasia (CAH). The aim of this study is to determine the patients diagnosed with TART and to evaluate the risk factors associated with the development of the disease. METHODS: Clinical characteristics of 31 patients with CAH including 19 male, and 12 female patients who were followed up in our clinic were retrospectively reviewed regarding the presence of TART. Differences between clinical and laboratory findings of patients with and without TART were examined. Six male patients with TART were included in the study. Clinical characteristics such as pubertal stage, treatment doses, laboratory findings were evaluated. Changes in size of TARTs were examined with ultrasound follow-ups at six month- intervals. RESULTS: The prevalence of TARTs was 31.5 % (6/19 male). Precocious puberty was higher in patients with TART than without TART. The mean age of the patients was 9.1±2.4 (range: 5.2-12.4) years at the time of diagnosis with TART. Five patients with TART were inadequately controlled. Four patients had a history of precocious puberty. Tumor progression was detected in 4 of 6 patients. In three patients with tumor progression, serum 17-hydroxy progesterone (17-OHP) values increased during follow-up, probably due to non-compliance with treatment. DISCUSSION AND CONCLUSION: Scrotal ultrasound monitoring should be performed in all male patients with CAH in early childhood irrespective of disease control.

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: Multicenter study of 45 French male patients

2012 ◽  
Vol 73 (6) ◽  
pp. 515-522 ◽  
Author(s):  
Peggy Pierre ◽  
François Despert ◽  
François Tranquart ◽  
Régis Coutant ◽  
Véronique Tardy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Multicenter Study ◽  
Adrenal Hyperplasia ◽  
Male Patients ◽  
Adrenal Rest
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