Breast development and satisfaction in women with disorders/differences of sex development

Abstract

STUDY QUESTION What are the levels of breast development and satisfaction in women with a Disorder/Difference of Sex Development (DSD)? SUMMARY ANSWER Compared with normative data, women with DSD reached lower Tanner stages and reported less breast satisfaction. WHAT IS KNOWN ALREADY Women with DSD may have chromosomal and hormonal variations that can impact typical breast development. While much emphasis is placed on genital development in this group, little is known about breast development, satisfaction and their association. STUDY DESIGN, SIZE, DURATION Data collection was part of the cross-sectional European multicenter dsd-LIFE study. Fourteen recruiting sites included 1040 participants between February 2014 and September 2015. PARTICIPANTS/MATERIALS, SETTING, METHODS A total of 695 female-identifying participants were included (Turner n = 332, 46,XY DSD n = 141 and congenital adrenal hyperplasia n = 222), with a median age of 28 years. Clinical (i.e. history of hormone and surgical treatments, Tanner breast examination) and patient-reported (i.e. breast satisfaction, relationship status, sexual satisfaction and experienced femininity) data was collected by independent trained research staff. The relationship between breast development, satisfaction and femininity was assessed. Control data on breast development and satisfaction in women without DSD was retrieved from the literature. MAIN RESULTS AND THE ROLE OF CHANCE Of the 695 participants, 61% had received estrogen replacement and 51% puberty induction therapy, whereas 2% had received breast augmentation surgery. Approximately 65% of participants had reached Tanner breast stage 5, which is substantially less than the general population (90%). Breast satisfaction was lower than normative data as well (P < 0.001, Cohen’s d = 0.45). Breast size and breast satisfaction were associated with feelings of femininity. LIMITATIONS, REASONS FOR CAUTION Limitations include the sample representativeness (e.g. regarding the clinical heterogeneity) and the limited in-depth knowledge on (prior) hormonal regimens. Furthermore, no (matched) control data was collected as part of this study. WIDER IMPLICATIONS OF THE FINDINGS In order to support the psychosexual well-being of women with DSD, enhancing breast development by sufficient hormone replacement and possible augmentation surgery is advocated. The scope of DSD management should be beyond genital development only and consider breasts as well. STUDY FUNDING/COMPETING INTEREST(S) The study was funded by the European Union Seventh Framework Program (FP7/2007–2013) under grant agreement no. 305 373. There are no competing interests. TRIAL REGISTRATION NUMBER German Clinical Trials Register: Registration identification number: DRKS00006072.

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

“…Breast development can be impaired in case of inadequate androgen control (649,655). The European multicenter dsd-LIFE study showed that only 68% of adults with CAH had reached Tanner stage B5 compared to 90% in women without DSD (656).…”

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

“…There is no specific study but P30L should influence puberty onset causing earlier puberty and may induce secondary central precocious puberty in individuals with the SV form [84,133]. In females, early puberty would be accompanied with clitoromegaly and impaired breast development [40,134].…”

Breast Satisfaction in adult women with Turner Syndrome - an international survey employing the BREAST-Q questionnaire

“…15 In general, subjective breast-satisfaction is widely under-reported and only one recent report from the dsd-LIFE initiative assessed breast satisfaction in a large multicentre cohort T A B L E 1 Balance summary measures for the case and the matched control cohort (n = 74) calculated for the matching variables age, education, and BMI (rounded) of women with differences in sexual development (DSD), which included 332 TS women. 28 The authors report lower satisfaction with breasts in TS based on a categorical scale in comparison to published data from the literature as no control data was collected as part of the study. Breast satisfaction was associated with a lower degree of sexual satisfaction and 'feelings of femininity' in the overall dsd-LIFE cohort, a finding we could confirm in our TS cohort based on the domains of the BREAST-Q questionnaire.…”