Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

Nordenström, Anna; Röhle, Robert; Thyen, Ute; Bouvattier, Claire; Słowikowska-Hilczer, Jolanta; Reisch, Nicole; Grinten, Hedi Claahsen van der; Perrière, Aude Brac de la; Cohen‐Kettenis, Peggy T.; Köhler, Birgit

doi:10.1111/cen.13518

Cited by 23 publications

(16 citation statements)

References 31 publications

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“…The adherence to HRT is sometimes not optimal. Lack of adequate information and/or understanding of the indications, mechanism of action and side effects of HRT could play a role [ 27 ]. The symptoms of not undergoing HRT are not immediately obvious, jeopardizing long-term compliance in not well-motivated women [ 26 ].…”

Section: Hormonal Substitutive Therapymentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Tyutyusheva

Mancini

Baroncelli

et al. 2021

IJMS

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Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

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Section: Hormonal Substitutive Therapymentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Tyutyusheva

Mancini

Baroncelli

et al. 2021

IJMS

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“…Lifelong steroid and sex hormone replacement therapy may induce side effects that negatively (or positively) impact QoL (4) and optimal dosing may vary with age (49,50). Very few studies address medical needs to optimise sexual function and to avoid secondary health consequences, especially at older ages.…”

Section: Medical Treatmentsmentioning

confidence: 99%

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Flück

Nordenström

Ahmed

et al. 2019

European Journal of Endocrinology

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The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.

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“…A newborn with ambiguous genitalia requires evaluation by a multidisciplinary team that aims to determine the sex of rearing, and eventually designs a long-term management plan in close co-operation with the patient and the family ( 1 ). It is generally agreed that timely diagnosis and management are important as they potentially prevent adverse health outcomes and improve long-term, health-related quality of life ( 5 , 6 , 7 , 8 , 9 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

Kohva

Miettinen

Taskinen

et al. 2018

Endocrine Connections

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BackgroundWe describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.MethodsDSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts.ResultsAmong the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001).ConclusionsOur results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients’ adulthood semen quality and (iii) next-generation sequencing methods are not fully employed in the diagnostics of DSD patients.

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Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

Cited by 23 publications

References 31 publications

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Disorders of sex development: timing of diagnosis and management in a single large tertiary center

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