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Experience in Optimising Fertility Outcomes in Men with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency.

King, TF; Lee, MC; Williamson, E; Conway, GS; (2016) Experience in Optimising Fertility Outcomes in Men with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency. Clinical Endocrinology (Oxf) , 84 (6) pp. 830-836. 10.1111/cen.13001. Green open access

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Abstract

OBJECTIVE: Men with congenital adrenal hyperplasia (CAH) have impaired fertility. We aimed to assess fertility outcomes and the importance of hypogonadotropic hypogonadism, testicular failure and the presence of testicular adrenal rest tumours (TART). DESIGN: Retrospective analysis of men attending an adult CAH clinic in a tertiary centre. PATIENTS: Fifty men with CAH due to 21 hydroxylase deficiency were identified of whom 35 were salt-wasting and 15 were non-salt-wasting. MEASUREMENTS: Review of fertility history and parameters including luteinising hormone (LH), follicle stimulating hormone (FSH), androstenedione, 17-hydroxyprogesterone (17-OHP), semen analysis and the presence of testicular adrenal rest tissue (TART) on ultrasound. RESULTS: TART were detected by ultrasound in 21 (47%) and their presence was associated with an elevated FSH (p=0.01). Severe oligospermia was present in 11/23 (48%), and this was associated with an elevated FSH (p=0.02), suppressed LH (p<0.01) and TART (p=0.03) when compared to those with a sperm count >5 x 10(6) per ml. Of those that desired fertility, 10/17 (59%) required treatment intensification, and 4 underwent in vitro fertilisation. Intensification resulted in a rise in median LH (0.6 to 4.3 IU/L; p=0.01). Live birth rate was 15/17 (88%) with a median (range) time to conception of 8(0-38) months. CONCLUSIONS: Suppressed LH is a marker for subfertility and is often reversible. Testicular failure is closely associated with TART formation. If TART are detected, sperm cryopreservation should be offered given the risk of progression to irreversible testicular failure. Male fertility in CAH can be improved by intensified treatment and assisted reproductive technology. This article is protected by copyright. All rights reserved.

Type: Article
Title: Experience in Optimising Fertility Outcomes in Men with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/cen.13001
Publisher version: http://dx.doi.org/10.1111/cen.13001
Language: English
Additional information: This is the pre-peer reviewed version of the following article: King, TF; Lee, MC; Williamson, E; Conway, GS; (2016) Experience in Optimising Fertility Outcomes in Men with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency. Clinical Endocrinology (Oxf) , 84 (6) pp. 830-836. 10.1111/cen.13001, which has been published in final form at http://dx.doi.org/10.1111/cen.13001. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving
Keywords: 21-hydroxylase deficiency, Congenital Adrenal Hyperplasia, Male Fertility, Oligospermia, Testicular Adrenal Rest Tumour
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
URI: https://discovery.ucl.ac.uk/id/eprint/1492730
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