scholarly journals How often are clinicians performing genital exams in children with disorders of sex development?

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Stefani S. Tica ◽  
Erica A. Eugster
Keyword(s):  
Repeated Measures ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Sex Development ◽  
Academic Center ◽  
Pediatric Endocrinologist ◽  
Repeated Measures Analysis ◽  
Common Diagnosis ◽  
Male Sex

AbstractBackground:We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.Methods:Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist. Repeated measures analysis was performed to evaluate associations between GEs and patient/physician factors.Results:Eighty-two children with DSD and AG who had a total of 632 visits were identified. Sex of rearing was female in 78% and the most common diagnosis was congenital adrenal hyperplasia (CAH) (68%). GEs were performed in 35.6% of visits. GEs were more likely in patients with male sex of rearing (odds ratio [OR] 17.81, p=0.006), during initial vs. follow-up visits (OR 5.99, p=0.012), and when the examining endocrinologist was female (OR 3.71, p=0.014). As patients aged, GEs were less likely (OR 0.76, p<0.0001).Conclusions:GEs were performed in approximately one-third of clinic visits in children with DSD and AG. Male sex of rearing, initial visits and female pediatric endocrinologist were associated with more frequent GEs.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.

scholarly journals Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

2020 ◽  
Vol 37 (1) ◽  
Author(s):  
Sarah Khan ◽  
Raafea Tafweez ◽  
Areiba Haider ◽  
Muhammad Yaqoob
Keyword(s):  
Child Health ◽  
Wide Spectrum ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Delayed Puberty ◽  
Female Sex ◽  
Sex Development ◽  
Mode Of Presentation ◽  
Genital Ambiguity ◽  
Male Sex

Objective: To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD) Methods: This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex. Results: Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2). Conclusion: Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders. doi: https://doi.org/10.12669/pjms.37.1.2991 How to cite this:Khan S, Tafweez R, Haider A, Yaqoob M. Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan. Pak J Med Sci. 2021;37(1):244-249. doi: https://doi.org/10.12669/pjms.37.1.2991 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Clinical profile and management challenges of disorders of sex development in Africa: a systematic review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Sebastian O. Ekenze ◽  
Ugo Chikani ◽  
Uchechukwu O. Ezomike ◽  
Charles O. Adiri ◽  
Augustine Onuh
Keyword(s):  
Systematic Review ◽  
Disorders Of Sex Development ◽  
Developed Countries ◽  
Delayed Presentation ◽  
Sex Reassignment ◽  
Loss To Follow Up ◽  
Sex Development ◽  
Male Sex ◽  
Reduced Rate

Abstract Objectives To review the published literature regarding disorders of sex development (DSD) in Africa which will highlight clinical characteristics, and challenges of evaluation and treatment of DSD. Content We performed systematic review of articles published on DSD in Africa between January 2001 and December 2020. Summary Eighteen studies involving 1980 patients from nine countries were analyzed. Overall mean age at presentation was 9.3 years (range 1 day–33 years) with 52.5 and 45.1% reared as females and males, respectively, prior to presentation. Following evaluation however, 64% were assigned female sex, 32.1% were assigned male sex, and 21.8% of the cases required sex reassignment. Only 7 (38.9%) of the publications reported medical treatment of DSD, 4 (22.2%) reported on psychosocial management and 5 (27.8%) documented multidisciplinary team management. Barring regional variations, the documented challenges of management include delayed presentation, loss to follow up, financial challenges, and lack of facilities for care of DSD. Comparison of the cases managed in the last decade (2011–2020) with those managed in the earlier decade (2001–2010) showed a trend towards earlier presentation and reduced rate of sex reassignment in the last decade. However, the challenges persisted. Outlook Barring regional differences, a high proportion of DSD in Africa may have delayed presentation with inappropriate sex of rearing, inadequate evaluation and need for sex reassignment. Specific efforts to improve time to diagnosis, patient evaluation, improvement of healthcare funding, and collaboration with more developed countries may improve the care of patients with DSD in Africa.

scholarly journals Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

scholarly journals Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

scholarly journals Comparison of Two Novel Methods for Sink Drain Disinfection

2020 ◽  
Vol 41 (S1) ◽  
pp. s180-s180
Author(s):  
Muhammed Fawwaz Haq ◽  
Lucas Jones ◽  
Natalia Pinto Herrera ◽  
Jennifer Cadnum ◽  
Philip Carling ◽  
...  
Keyword(s):  
Repeated Measures ◽  
Contact Time ◽  
Healthcare Facility ◽  
Gram Negative ◽  
Disinfection Methods ◽  
Initial Reduction ◽  
Repeated Measures Analysis ◽  
Potential Reservoir ◽  
Cleaning And Disinfection

Background: Sink drainage systems are a potential reservoir for the dissemination of gram-negative bacilli but are not amenable to standard methods of cleaning and disinfection. Pouring liquid disinfectants down drains has only a limited and transient effect on drain colonization, presumably due to inadequate disinfectant contact time and suboptimal penetration into areas harboring biofilm-associated organisms. Methods: We compared the antimicrobial efficacy of 2 novel sink disinfection methods intended to enhance disinfectant contact time and penetration. Healthcare facility sinks were randomly assigned to disinfection with 300 mL hydrogen peroxide-based disinfectant applied either as a foam (N = 13 sinks) or instilled for 30 minutes behind a temporary obstruction created by an inflated urinary catheter balloon (N = 12 sinks). Swabs were used to collect quantitative cultures from the proximal sink drain to depth of 2.5 cm (1 inch) below the strainer before treatment and at 15 minutes and 1, 2, 3, 5, and 7 days after treatment. Repeated measures analysis of variance was performed to compare the efficacy of the 2 treatments. Results: As shown in Fig. 1, both methods yielded an initial reduction of >3 log10 CFU of gram-negative bacilli. Over the 7-day follow-up period, disinfectant instillation resulted in significantly greater reduction than the foam application (P < .01). Recovery of sink colonization to >2 log per swab occurred at day 3 for both treatments, whereas recovery to >3 log per swab occurred on day 3 for the foam treatment versus day 7 for disinfectant instillation. Conclusions: Two novel disinfection methods were effective in reducing sink drain colonization for several days. The instillation method was more effective than the foam method in maintaining reductions over 7 days.Funding: NoneDisclosures: NoneDisclosures: NoneFunding: None

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami
Keyword(s):  
Disorders Of Sex Development ◽  
Reference Value ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Sex Development ◽  
Liquid Chromatography Tandem Mass ◽  
Exon 1 ◽  
Genome Analyses ◽  
Immune Assays

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.

scholarly journals Dental arch effects after early and later timed cervical headgear treatment—a randomized controlled trial

2019 ◽  
Vol 41 (6) ◽  
pp. 622-630
Author(s):  
Johanna Julku ◽  
Matti Hannula ◽  
Kirsi Pirilä-Parkkinen ◽  
Mimmi Tolvanen ◽  
Pertti Pirttiniemi
Keyword(s):  
Repeated Measures ◽  
Controlled Trial ◽  
Class Ii ◽  
Dental Arch ◽  
Maxillary Molars ◽  
Parallel Group ◽  
Repeated Measures Analysis ◽  
Size Groups ◽  
T1 And T2

Summary Background Cervical headgear (CH) is a commonly used orthodontic appliance and its dentoalveolar changes are known. However, the effects related to gender and timing have gained less attention. Objectives To examine dimensions of dental arches among children with Class II occlusion without posterior mandibular rotation according to timing of Kloehn-type CH treatment. Trial design Prospective, randomized, parallel-group controlled trial. Methods Sixty-seven seven-year-old children with a Class II occlusion were included in the study. The children were randomized into two equal-size groups in 1:1 ratio by sealed-envelope randomization. The early group (EG, n = 33) was treated between T0 and T1 (26 months), right after eruption of the first maxillary molars. The late group (LG, n = 34) was treated between T1 and T2 (24 months). The children were treated with CH until normal Class I occlusion on first molars was achieved. Impressions for dental casts were taken from all participants at T0, T1, and T2. Blinding was applicable for outcome assessors. Changes in dental cast measurements were compared between the groups and genders using t-test, Mann-Whitney U-test, and repeated measures analysis of variance. Results Of the children, 56 completed the study. The maxillary arch length and the transversal changes between the upper canines and upper first molars were significantly increased in EG at T0−T1 (P < 0.001). At T2, the transversal dimension between the upper first molars was larger (P < 0.05), and in the lower arch the mandibular arch length (P < 0.05) and the transversal dimension between the lower first molars (P < 0.01) were increased in EG males compared to LG males. No harms were encountered. Conclusions The male gender benefits most from early timing of the CH treatment, showing larger dimensions at the end of the follow-up. The results clearly indicated a wider and longer upper dental arch and spontaneous expansion of the lower dental arch after treatment. Clinical Registration NCT02010346.

scholarly journals Asymmetric dental arch treatment with Forsus fatigue appliances: Long-term results

2019 ◽  
Vol 89 (5) ◽  
pp. 688-696 ◽  
Author(s):  
Mehmet Akın ◽  
Emire Aybuke Erdur ◽  
Onur Öztürk
Keyword(s):  
Repeated Measures ◽  
Class Ii ◽  
Long Term Results ◽  
Dental Arch ◽  
Retention Period ◽  
Repeated Measures Analysis ◽  
Dental Models ◽  
Digital Dental Models

ABSTRACT Objectives: To investigate the treatment efficacy and follow-up stability of the asymmetric Forsus appliance by evaluating longitudinal changes in dental arch asymmetry on digital dental models from 21 patients. Materials and Methods: Maxillary and mandibular reference lines were used for measurements of intra-arch asymmetry at pretreatment (T1), posttreatment (T2), and 4.2 years after treatment (T3). Maxillary and mandibular measurements were performed relative to the dental midline and anterior reference line on digital dental models. To determine the amount of asymmetry between the Class I and Class II sides of a given arch, all maxillary and mandibular parameters were measured on each side of the model separately. Repeated-measures analysis of variance/paired sample t-tests were performed to evaluate dental arch asymmetries at the P &lt; .05 level. Results: The alveolar transverse dimensions of the posterior segment of both arches were increased during treatment (P &lt; .05) and remained stable during the retention period. Class II subdivision malocclusion was caused by distal positioning of the mandibular canine, premolars, and first molar on the Class II side (P &lt; .05). Asymmetry was resolved by treatment with asymmetric Forsus appliances. The resolved asymmetry remained stable over the long term. There were no significant differences between T2 and T3 (P &gt; .05). Conclusions: The asymmetric Forsus appliance can be used to treat dental arch asymmetry in patients with Class II subdivision malocclusions.

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