Thomas F. Kolon
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View article: Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline
Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline Open
Aberrant male germline development can lead to the formation of seminoma, a testicular germ cell tumor. Seminomas are biologically similar to primordial germ cells (PGCs) and many bear an isochromosome 12p [i(12p)] with two additional copi…
View article: Increased Expression of<i>ZFPM2</i>Bypasses<i>SRY</i>to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD
Increased Expression of<i>ZFPM2</i>Bypasses<i>SRY</i>to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD Open
We present a patient with a novel cause of 46,XX ambiguous/androgenous genitalia Differences of Sex Development (DSD). Genome-wide array from blood showed 46,XX with ∼35% mosaic duplication of 76.5 Mb at chromosome 8q13.2-q24.3, containing…
View article: P337: Psychosocial adjustment and distress in neonatal vs adolescent diagnosis of SRY–related gonadal dysgenesis: Two illustrative cases
P337: Psychosocial adjustment and distress in neonatal vs adolescent diagnosis of SRY–related gonadal dysgenesis: Two illustrative cases Open
The arrival of cfDNA testing in pregnancy has fundamentally changed the timeline for diagnosis of many variations of sex characteristics (VSC)/differences of sex development (DSD). Fetal genotype-phenotype sex discordance is now being iden…
View article: Adverse Birth Experiences and Parent Adjustment Associated With Atypical Genital Appearance Due to Differences of Sex Development
Adverse Birth Experiences and Parent Adjustment Associated With Atypical Genital Appearance Due to Differences of Sex Development Open
Objective Differences/disorders of sex development (DSDs) are rare, congenital conditions involving discordance between chromosomes, gonads, and phenotypic sex and are often diagnosed in infancy. A key subset of parents of children newly d…
View article: Expanding the reproductive organ phenotype of <i>CHD7</i>‐spectrum disorder
Expanding the reproductive organ phenotype of <i>CHD7</i>‐spectrum disorder Open
CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropen…
View article: Decisional Regret Among Caregivers of Infants with Differences of Sex Development Reared as Male
Decisional Regret Among Caregivers of Infants with Differences of Sex Development Reared as Male Open
Objective: Differences of sex development (DSD) are congenital conditions in which individuals are discordant in their chromosomal, phenotypic, and/or gonadal sex. Treatment of DSD can involve surgical intervention to external genitalia to…
View article: Table of Contents
Table of Contents Open
View article: Evolution of telemedicine utilization for pediatric urology during the COVID-19 pandemic and beyond: A single center experience
Evolution of telemedicine utilization for pediatric urology during the COVID-19 pandemic and beyond: A single center experience Open
Telemedicine utilization rapidly expanded throughout the coronavirus disease 2019 (COVID-19) pandemic and yielded numerous patient benefits. However, its future remains uncertain, limiting further institutional investments in telemedicine.…
View article: A Tribute to Dr. Douglas A. Canning: Surgeon, Educator, Friend
A Tribute to Dr. Douglas A. Canning: Surgeon, Educator, Friend Open
View article: Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function <i>LHCGR</i> Variant
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function <i>LHCGR</i> Variant Open
Context Autosomal dominant and rarely de novo gain-of-function variants in the LHCGR gene are associated with precocious male puberty, while somatic LHCGR variants have been found in isolated Leydig cell adenomas and Leydig cell hyperplasi…
View article: Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development
Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development Open
View article: eP221: Increased expression of ZFPM2 bypasses SRY to drive 46,XX testicular development: A new mechanism of 46,XX DSD
eP221: Increased expression of ZFPM2 bypasses SRY to drive 46,XX testicular development: A new mechanism of 46,XX DSD Open
View article: Expanding the Use of Nephron-Sparing Surgery for Wilms Tumor
Expanding the Use of Nephron-Sparing Surgery for Wilms Tumor Open
Radical nephrectomy combined with contemporary chemotherapeutic and radiation therapy protocols has drastically improved outcomes for children with Wilms tumor. Patients with bilateral disease and a syndrome predisposing to tumor developme…
View article: Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome
Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome Open
Introduction Osteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by …
View article: Single institution experience with telemedicine for pediatric urology outpatient visits: Adapting to COVID-19 restrictions, patient satisfaction, and future utilization
Single institution experience with telemedicine for pediatric urology outpatient visits: Adapting to COVID-19 restrictions, patient satisfaction, and future utilization Open
View article: Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model
Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model Open
Objective This study identifies trajectories of parent depressive symptoms after having a child born with genital atypia due to a disorder/difference of sex development (DSD) or congenital adrenal hyperplasia (CAH) and across the first yea…
View article: Kidney Outcomes and Hypertension in Survivors of Wilms Tumor: A Prospective Cohort Study
Kidney Outcomes and Hypertension in Survivors of Wilms Tumor: A Prospective Cohort Study Open
View article: Total Motile Sperm Count in Adolescent Boys with Varicocele is Associated with Hormone Levels and Total Testicular Volume
Total Motile Sperm Count in Adolescent Boys with Varicocele is Associated with Hormone Levels and Total Testicular Volume Open
Total motile sperm count is inversely associated with follicle-stimulating hormone levels, and directly associated with inhibin B levels and total testicular volume. Optimized cutoffs for serum follicle-stimulating hormone, inhibin B and t…
View article: Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study Open
View article: MP65-01 DOES KETOROLAC ADMINISTRATION DURING HYPOSPADIAS SURGERY INCREASE UNPLANNED ENCOUNTERS IN THE IMMEDIATE POSTOPERATIVE PERIOD?
MP65-01 DOES KETOROLAC ADMINISTRATION DURING HYPOSPADIAS SURGERY INCREASE UNPLANNED ENCOUNTERS IN THE IMMEDIATE POSTOPERATIVE PERIOD? Open
You have accessJournal of UrologyPediatrics: Hypospadias and Penile Surgery (MP65)1 Apr 2020MP65-01 DOES KETOROLAC ADMINISTRATION DURING HYPOSPADIAS SURGERY INCREASE UNPLANNED ENCOUNTERS IN THE IMMEDIATE POSTOPERATIVE PERIOD? Sameer Mittal…
View article: MP65-02 QUANTIFYING GLANS WIDTH CHANGES WITH AND WITHOUT TESTOSTERONE IN PATIENTS UNDERGOING HYPOSPADIAS REPAIR
MP65-02 QUANTIFYING GLANS WIDTH CHANGES WITH AND WITHOUT TESTOSTERONE IN PATIENTS UNDERGOING HYPOSPADIAS REPAIR Open
You have accessJournal of UrologyPediatrics: Hypospadias and Penile Surgery (MP65)1 Apr 2020MP65-02 QUANTIFYING GLANS WIDTH CHANGES WITH AND WITHOUT TESTOSTERONE IN PATIENTS UNDERGOING HYPOSPADIAS REPAIR Sameer Mittal, Sarah Christianson*,…
View article: Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development
Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development Open
Early psychosocial screening is recommended for parents of children with disorders of sex development. Clinicians should be aware that financial burden and lack of previous parenting experience are risk factors for distress.
View article: Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development
Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development Open
View article: Case report: Ampicillin-induced stone formation causing bilateral ureteral obstruction during pelvic surgery
Case report: Ampicillin-induced stone formation causing bilateral ureteral obstruction during pelvic surgery Open
Numerous medications can predispose patients to stone formation. Some induce metabolic changes that alter urine chemistries, such as topiramate, which can cause a mixed renal tubular acidosis. Others or their breakdown products form stones…
View article: Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing
Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing Open
An 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 s…
View article: Testicular endothelial cells are a critical population in the germline stem cell niche
Testicular endothelial cells are a critical population in the germline stem cell niche Open
Maintenance of adult tissues depends on stem cell self-renewal in local niches. Spermatogonial stem cells (SSC) are germline adult stem cells necessary for spermatogenesis and fertility. We show that testicular endothelial cells (TECs) are…
View article: What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia Open
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome‐specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical …
View article: Tunica vaginalis flap for salvaging testicular torsion: A matched cohort analysis
Tunica vaginalis flap for salvaging testicular torsion: A matched cohort analysis Open
View article: Preliminary report: Surgical outcomes following genitoplasty in children with moderate to severe genital atypia
Preliminary report: Surgical outcomes following genitoplasty in children with moderate to severe genital atypia Open
View article: 265 BK-Virus Positive Invasive High-Grade Urothelial Carcinoma in an 8-Year-Old Renal Transplant Recipient With BK Virus Nephropathy
265 BK-Virus Positive Invasive High-Grade Urothelial Carcinoma in an 8-Year-Old Renal Transplant Recipient With BK Virus Nephropathy Open
Urothelial carcinoma is extremely rare in children and may be fundamentally different than in adults. Fewer than 30 cases have been reported in patients under 10 years old. BK polyomavirus infection is a major problem in transplantation, e…