Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families

Ollivier, Matthieu; Paris, Florentin; Philibert, Pascal; Garnier, Sarah; Coffy, Amandine; Fauconnet-Servant, Nadège; Haddad, M.; Guys, Jean Michel; Reynaud, Rachel; Faure, A.; Merrot, Thierry; Wagner, K. H.; Bréaud, Jean; Valla, Jean Stéphane; Dobremez, E.; Gaspari, Laura; Daurès, Jean‐Pierre; Sultan, Charles; Kalfa, Nicolas

doi:10.1016/j.juro.2018.04.072

Cited by 14 publications

(8 citation statements)

References 23 publications

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“…A detailed family history, including fertility, is essential to explore possible inheritance mechanisms and to lend support for molecular genetic investigations in individuals with milder phenotypes. Phenotypic variability within families may be broad and may comprise subfertility/ infertility as the only sign, depending on the severity of the mutation (21,22).…”

Section: Family Datamentioning

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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Section: Family Datamentioning

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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“…In evaluating isolated hypospadias, which can be associated with a DSD, Ollivier et al [12] recently reported that a positive family history has been underestimated in children. Although previous studies have indicated a family history in ~10% of individuals, their study found a family history in 22% [12–14]. Thus, our findings were similar to those of previous studies assessing family history.…”

Section: Discussionmentioning

confidence: 99%

Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing

Finlayson

Rosoklija

Aston

et al. 2018

Journal of the Endocrine Society

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PurposeLittle is known about the phenotypes, diagnoses, and sex of rearing of infants with atypical genital development in the United States. As part of a multicenter study of these infants, we have provided a baseline report from US difference/disorder of sex development clinics describing the diagnoses, anatomic features, and sex of rearing. We also determined whether consensus guidelines are followed for sex designation in the United States.MethodsEligible participants had moderate-to-severe genital atypia, were aged <3 years, and had not undergone previous genitoplasty. Karyotype, genetic diagnosis, difference/disorder of sex development etiology, family history, and sex of rearing were collected. Standardized examinations were performed.ResultsOf 92 subjects, the karyotypes were 46,XX for 57%, 46,XY for 34%, and sex chromosome abnormality for 9%. The median age at the baseline evaluation was 8.8 months. Most 46,XX subjects (91%) had congenital adrenal hyperplasia (CAH) and most 46,XY subjects (65%) did not have a known diagnosis. Two individuals with CAH underwent a change in sex of rearing from male to female within 2 weeks of birth. The presence of a uterus and shorter phallic length were associated with female sex of rearing. The most common karyotype and diagnosis was 46,XX with CAH, followed by 46,XY with an unknown diagnosis. Phenotypically, atypical genitalia have been most commonly characterized by abnormal labioscrotal tissue, phallic length, and urethral meatus location.ConclusionsAn increased phallic length was positively associated with rearing male. Among the US centers studied, sex designation followed the Consensus Statement recommendations. Further study is needed to determine whether this results in patient satisfaction.

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“…We collected information about potential confounding factors (CFs) associated with a higher risk of hypospadias: family history of hypospadias, [4,33] syndromic association, consanguinity, known genetic defect, [6] ART, [11,12,34] vegetarian diet, [35] and known exposure for endocrine disrupting chemicals.…”

Section: Methods 21 Study Area and Data Sourcesmentioning

confidence: 99%

Spatial analysis of hypospadias cases in northern France: Taking clinical data into account.

Prevost

Génin

OCCELLI

et al. 2020

Preprint

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Background Strong evidence for a causal role of environmental factors in a congenital anomaly is still difficult to produce. The collection of statistical data is crucial for gaining a better understanding of the epidemiology and pathophysiology of these anomalies. We aimed to evaluate spatial variations in hypospadias in our region, taking into account of clinical data, and evaluate association to socio-economic and ecological data. Methods All boys with hypospadias born in northern France and seen in Lille University Medical Center (Lille, France) between 1999 and 2012 were included in the analysis. We retrospectively collected geographic data, clinical data (especially known confounding factors associated with an elevated risk of hypospadias), and demographic, socio-economic and ecological data. We analyzed the whole study population and then the subset of boys lacking confounding factors. Results The study sample of 975 cases of hypospadias was characterized by significant spatial heterogeneity (p<0.005) and autocorrelation (p<0.001). We detected two high-incidence clusters that differed with regard to their land use. After the exclusion of 221 patients with confounding factors, two high-incidence clusters with significant disease risks (1.65 and 1.75, respectively; p<0.001) and a significant difference in land use (p<0.001) again appeared. The first cluster contained a higher median [interquartile range] proportion of artificialized land (0.40 [0.22;0.47]) than the remaining “neutral areas” (0.19 [0.08;0.53]) did (p<0.001). Conversely, the second cluster contained a higher median proportion of rural land (0.90 [0.78;0.96]) than the “neutral areas” (0.81 [0.47;0.92]) did (p<0.001). The median deprivation index was significantly lower in the urban cluster (0.47 [0.42;0.55]) and significantly higher in the rural cluster (0.69 [0.56;0.73]) (p<0.001). Conclusions Our results evidenced the heterogeneous spatial distribution of cases of hypospadias in northern France. We identified two clusters with different environmental and social patterns – even after the exclusion of known confounding factors.

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Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families

Cited by 14 publications

References 23 publications

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

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

Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing

Spatial analysis of hypospadias cases in northern France: Taking clinical data into account.

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