Genitalia In Children Research Articles

Dermatoscopic features of vulvar lichen sclerosus in children: A retrospective study.

To explore the dermoscopic features of lichen sclerosus in different parts of the external genitalia in children. A retrospective analysis of the dermoscopic features of 42 female children with vulvar lichen sclerosus treated in the Department of Dermatology of Shanxi Children's Hospital from January 2020 to May 2023. Among the 42 female children, aged 3-14 years (mean: 7.24 ± 2.43 years), the duration of vulvar lichen sclerosus ranged from 3 months to 2 years (mean: 9.83 ± 4.93 months). Clinical lesions occurred in the labia minora in 18 cases (42.9%), labia majora in 38 cases (90.5%), posterior fourchette in 36 cases (85.7%), perianal area in 13 cases (31.0%), anterior fourchette in 17 cases (40.5%), clitoris in seven cases (16.7%), and interlabial sulcus in 11 cases (26.2%). Dermoscopic findings common in the labia majora included follicular keratotic plugs, cloverleaf-like structures, comedo-like openings, and linear vessels (p < .05); however, purple-red globules and patches and white linear streaks were more common in the posterior fourchette (p < .05), whereas dotted vessels were more common in the labia minora (p < .05). Common dermoscopic findings in pediatric vulvar lichen sclerosus were yellow-white structureless areas, white linear streaks, follicular keratotic plugs, and cloverleaf-like structures; yellow-white structureless areas and white linear streaks showed the highest specificity. The dermoscopic findings varied among different affected areas, which provides a basis for further understanding of the characteristics of different sites of vulvar lichen sclerosus in the pediatric population.

''Should the child be raised as male or female?'' The evaluation and management of different causes of ambiguous genital appearance in children

Diagnosing, managing and assigning gender for different causes of ambiguous genitalia in children can be challenging. This article will discuss about the types, diagnosis and treatment of disorders of sex development including congenital adrenal hyperplasia, 46 XY mixed gonadal dysgenesis and 46XY ovotesticular disorder of sex development. This article reports about 3 cases of disorders of sex development. The first case is about a three-year-old girl who was diagnosed with congenital adrenal hyperplasia, genital examination revealed clitoromegaly and a single urogenital sinus; she was managed medically and surgically. The second case is about a one-month-old child with 46XY karyotype, genital examination revealed penoscrotal hypospadias with right palpable and left impalpable gonads. Patient underwent diagnostic laparoscopy in which both female and male internal organs were found; based on these results a diagnosis of 46XY ovotesticular disorder of sex development was made. The third case is about a 3-month-old child with 46XY karyotype, genital examination revealed hypospadias with bilateral impalpable gonads. Diagnostic laparoscopy showed a uterus with a bilateral ovary-looking gonad; histopathology of the bilateral ovary-looking gonads was consistent with testicular tissue. Based on the above, a diagnosis of 46XY mixed gonadal dysgenesis was made. Disorders of sex development are classified into three main categories based on the karyotype, XX, XY and sex chromosome other than XX and XY. Laboratory investigations, karyotype, genetic analysis, imaging, surgery and tissue biopsy, all aid in diagnosing, deciding gender identity and managing different types of disorders of sex development.

Psychiatric Approach Management of Ambiguous Genitalia in Children and Teenagers

AbstractIntroductions: Ambiguous genitalia is a congenital disorder defined by atypical development at the chromosomal, gonadal, or anatomical levels of the sex organ. The incidence of ambiguous genitalia is estimated to be 1 in 4500-5500 births. The management of ambiguous genitalia takes an extended time. This can lead to psychiatric manifestations such as depression, anxiety, suicidal ideation, and substances. Objectives: The study aimed to describe the management of ambiguous genitalia in the scope of psychiatry to optimize the comprehensive treatment of the disorder and achieve a good quality of life for a person with ambiguous genitalia in Indonesia. Methods: This study is a literature review that collects from various sources of scientific journals related to the psychiatric management of the disorder. Results: Ambiguous genitalia should be treated by a multidisciplinary approach, with a mental health professional and other essential expertise of the team. Improper application of parenting in childhood can create a problem in adolescence and adulthood. Certain aspects of the management need a psychiatrist’s assistance. Psychological management should focus on giving reliable information that is not confusing and preparing children and adolescents to encounter general and sexual life problems. The family and the child should always be involved during the process. Conclusions: The purpose of the entire ambiguous genitalia treatment is to strengthen the patient and family’s adaptive coping to the stressors correlated with ambiguous genitalia and the management to promote good quality of life for children and adolescents.

Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development

Infants with genital development considered atypical for assigned female sex may undergo feminizing genitoplasty (clitoroplasty and/or vaginoplasty) in early life. We sought to identify factors associated with parent/caregiver decisions regarding genitoplasty for their children with genital virilization. Longitudinal, observational study SETTING: Twelve pediatric centers in the United States with multidisciplinary differences/disorders of sex development clinics, 2015-2020 PARTICIPANTS: Children under 2 years old with genital appearance atypical for female sex of rearing and their parents/caregivers INTERVENTIONS/OUTCOME MEASURES: Data on the child's diagnosis and anatomic characteristics before surgery were extracted from the medical record. Parents/caregivers completed questionnaires on psychosocial distress, experience of uncertainty, cosmetic appearance of their child's genitalia, and demographic characteristics. Urologists rated cosmetic appearance. For 58 patients from the study cohort with genital virilization being raised as girls or gender-neutral, we compared these data across 3 groups based on the child's subsequent surgical intervention: (i) no surgery (n=5), (ii) vaginoplasty without clitoroplasty (V-only) (n=15), and (iii) vaginoplasty and clitoroplasty (V+C) (n=38). Fathers' and urologists' ratings of genital appearance were more favorable in the no-surgery group than in the V-only and V+C groups. Clitorophallic length was greater in the V+C group compared with the V-only group, with substantial overlap between groups. Mothers' depressive and anxious symptoms were lower in the no-surgery group compared with the V-only and V+C groups. Surgical decisions were associated with fathers' and urologists' ratings of genital appearance, the child's anatomic characteristics, and mothers' depressive and anxious symptoms. Further research on surgical decision-making is needed to inform counseling practices.

Comment to “A global view of pediatric urology”

Honouring the Founding Member of the Journal of Pediatric Urology with a lecture and a medal carrying his name is an essential reward for Mr. David Frank. I will always remember the date of June 21, 2003 in Antibes when David and I decided to create the Journal of Pediatric Urology. The same day J.K. Rowling released “Harry Potter and the Order of the Phenix” … A global view of pediatric urologyJournal of Pediatric UrologyVol. 18Issue 3PreviewOver the course of approximately 60 years, the field of pediatric urology has evolved as a convergence of pediatric surgery, urology, and plastic surgery to address congenital anomalies of the urinary tract and genitalia in children. Guidelines for training and certification are narrowing in high-income countries (HICs) at the same time as the fertility rate is declining and the prevalence of complex genitourinary (GU) conditions is decreasing. In low-and middle-income countries (LMICs), health systems for large populations are currently in a state of stress. Full-Text PDF Open AccessResponse to commentary re ‘A global view of pediatric urology’Journal of Pediatric UrologyVol. 18Issue 3PreviewIt is my hope that the paper brings into focus opportunities to strengthen pediatric urological care in LMICs while also maintaining the breadth of skills available in HIC's. Taking a “global surgery” approach to training can help break down silos between urology training and pediatric surgery in HICs as well as in LMICs. Full-Text PDF

Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency of an enzyme required for cortisol synthesis in the adrenal cortex. In 90-95% of cases, the deficient enzyme is 21-hydroxylase (21-OH), with an incidence ranging from 1 in 5,000 to 15,000 live births across various ethnic and racial backgrounds. In classical 21-OH deficiency (21-OHD) CAH, excessive androgen exposure in the fetus results in virilization at birth.1&#x0D; The management of ambiguous genitalia in children with CAH presents a unique and ethically challenging decision-making dilemma for the medical team. Insensitive and poorly informed statements made in the delivery room may cause long-term psychological problems for the families. It is important to refrain from assigning gender until sufficient diagnostic information can be gathered. Parents, as guardians, and the supporting medical team must make decisions on behalf of the child, with the goal of enabling the child to grow into a healthy and happy adult with his or her assigned gender.2,3 We report a case of a child with CAH, focusing on the ethical challenges in management of ambiguous genitalia.

Findings in physical examination of the external genitalia in pediatric age − different is not always pathological - Part II (female)

Introduction: Findings in the physical examination of the external genitalia in children are often a source of concern for parents and caregivers, not only for the emotional significance that people unconsciously attribute to these structures (partly due to their reproductive function), but also for the physical and psychological impact in the child. Due to the child’s close monitoring and periodic surveillance, the family physician has a key role in the identification and initial guidance of these cases. Objectives: To review the evidence about main variations and anomalies of the external male genitalia in pediatric age regarding diagnosis and clinical approach in primary health care. Results: In most cases, anomalies in the external male genitalia represent variants of normal and/or do not significantly affect function, thus only requiring clinical surveillance and no intervention. However, some cases − as epispadias, hypospadias, and urethral duplication − require surgical intervention and early action is crucial for the success of implemented measures. Conclusion: Physical examination is a key aspect of child assessment. Although changes in physical examination of the external male genitalia mostly represent normality variants, clinicians should be able to recognize pathological changes and properly refer those cases without overloading health services or causing unnecessary anxiety to children and caregivers.

Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)

Introduction: Findings in the physical examination of the external genitalia in children are often a source of concern for parents and caregivers, not only for the emotional significance that people unconsciously attribute to these structures (partly due to their reproductive function), but also for the physical and psychological impact in the child. Due to the child’s close monitoring and periodic surveillance, the family physician has a key role in the identification and initial guidance of these cases. Objectives: To review the evidence about main variations and anomalies of the external male genitalia in pediatric age regarding diagnosis and clinical approach in primary health care. Results: In most cases, anomalies in the external male genitalia represent variants of normal and/or do not significantly affect function, thus only requiring clinical surveillance and no intervention. However, some cases − as epispadias, hypospadias, and urethral duplication − require surgical intervention and early action is crucial for the success of implemented measures. Conclusion: Physical examination is a key aspect of child assessment. Although changes in physical examination of the external male genitalia mostly represent normality variants, clinicians should be able to recognize pathological changes and properly refer those cases without overloading health services or causing unnecessary anxiety to children and caregivers.

Imaging of diseases of the vagina and external genitalia in children.

A wide range of congenital or acquired conditions, some pretty rare, may affect the vulva and vagina in children. Swelling, visible or palpable masses and abnormal discharges are common symptoms of conditions affecting the vulva and/or the lower genital tract. The majority of these diseases are benign. Ultrasonography is pivotal to elucidate the anatomical origin of these conditions and make the diagnosis. Magnetic resonance imaging can be relevant to improve diagnostic confidence and, if needed, to plan more accurate surgical treatment. The aim of this pictorial essay is to review the related imaging findings to help make radiologists familiar with these conditions.

INJURIES OF EXTERNAL GENITAL ORGANS IN GIRLS AND YOUNG FEMALES

In the last decade the number of injuries of the external genital organs in young females and girls predominantly aged of 2--11 years, mainly as a result of falling on the blunt and sharp objects (which include injuries in girls and young women that occurs at home, in the yard, in kindergartens, pre-schools and schools), rarely enforced, and transport of iatrogenic injuries that require emergency treatment, shows a tendency to increase. Injuries rate of the external genital organs amounts of 3-4% compared to injuries at other sites. The consequences of the trauma of the external genital organs are a serious problem due to the rather complex anatomy, especially in associated injuries. By etiological basis, injuries are divided into mechanical, thermal, chemical, electrical, radiation damage. Specialists in gynecology of children and adolescents often deal with mechanical injuries. Among the factors contributing to injuries in girls and young women, there are most important anatomical and physiological features, which include the poorly defined subcutaneous fat layer, loose coupling of the integumentary epithelium to the underlying tissue, a thin epidermal layer, hardly performing the role of mechanical protection. The diagnosis of injuries of the external genital tract in girls is based on the comprehensive examination, which includes data of anamnesis, examination of the external genitalia, vaginoscopy. Diagnosis may also be based on the results of special additional studies: sigmoidoscopy, cystoscopy, rectoromanoscopy, radiography of abdominal organs and pelvic bones. In any kind of injuries of the external genitalia in girls and young females in addition to local research, one should conduct an examination of other organs and systems, particularly of the abdomen (palpation, percussion). The tactic of the doctor directly depends on the extent of the injury, its consistency and the time interval between injury and hospitalization. The subject of this communication is a review of the literature devoted to injuries of the external genitalia in children and the algorithm of management of these female patients.

Special urological traumatology in children and adolescents

Isolated injuries of the genitourinary tract are rare, with the kidney being the most frequently affected organ, especially in situations of polytrauma. Overall, the genitourinary tract is involved in approximately 3 % of all children suffering polytrauma accidents. The literature and international guidelines provide clear therapeutic concepts with a consensus on the diagnosis and treatment of renal trauma, both for the treatment of adults and for children and adolescents. However, the most common injuries to the external genitalia in children and adolescents are caused by blunt trauma, abrasion, bruising, and piling. For these forms of injuries there are no general recommendations in literature and guidelines regarding diagnostic or therapeutic procedures, which may be due to the wide variety of origins of the injuries. Consequently, as shown in our sequence of case reports, each type of injury to the external genitourinary system requires an individual evaluation and therapeutic approach.

Prospective assessment of cosmesis before and after genital surgery

Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty. Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P<0.001) and fathers (P≤0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P<0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings. This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life. In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.

Animal bite of genitalia in a child: A rare case of anterior urethral injury

Pediatric genital injuries are relatively uncommon. Urethral injuries occur in 3.4% of genitourinary injuries in children. The majority of urethral injuries in boys are to the anterior urethra. We review the diagnosis and management of anterior urethral injuries in the setting of a dog bite to the genitalia in child.

Urethroplasty using autologous keratinocytes on the biodegrading matrix in children with proximal hypospadias

The paper presents the types of reconstructive plastic surgery of the external genitalia in children with proximal hypospadias. It describes surgical techniques that could perform perineoscrotal plasty using autologous bioengineering designs. The techniques of one-stage surgical aid for urethral trunk plasty are unveiled. The application of autologous keratinocytes on the biodegrading matrix is the method of choice during stepwise urethroplasty in children with proximal hypospadias. When a plastic material suitable for modeling an extensive urethra is hard to get, this method makes it possible to avoid hair growth in the neourethra and to create a reserve for the plastic material that is necessary for further repair, thereby reducing the number of surgical aids and complications.

Drop the Knife! Instituting policies of Nonsurgical Intervention for Intersex Infants

When a child is born intersex, meaning that they possess genitalia medically categorized as both male and female, it is common for doctors to recommend surgical alteration of the child as early as possible to identify the child as either only male or only female on their birth certificate. These surgeries are largely cosmetic in nature and may still be performed based on now‐debunked theories about the relationship between a child's genitalia, sexual identity, and gender socialization. Further, these surgeries often have negative consequences, including the loss of sexual function and feeling in ones' genitalia. Currently, in the United States there are virtually no barriers to parental consent to these surgeries. In other countries, however, these surgeries have been contested and sometimes banned. As such, this Note recommends that, as was done in Colombia, legislation be enacted that severely restricts parents' ability to consent to these cosmetic surgeries. It also recommends allowing a child to be identified as intersex on their birth certificate, as was recently enacted in Germany, to help relieve the pressure to surgically alter a child as soon as possible after birth. Key Points for the Family Court Community Intersex children born in the United States are being subjected to cosmetic genitalia surgeries with little to no benefit. U.S. law does nothing to regulate this. Other countries are addressing this issue through legislative and court actions. States should consider restricting parents' rights to consent to these surgeries to shift the question of surgical alteration to the intersex individual themselves.

An unexpected diagnosis in children with male phenotype and bilateral nonpalpable gonad: congenital adrenal hyperplasia with female genotype

Female pseudohermaphroditism is the most frequent form of ambiguous genitalia in children with congenital adrenal hyperplasia (CAH). However, a small group of children with complete urethral development in contrast to 46XX karyotype can be encountered. We aimed to define the characteristics of patients with 46XX CAH but having fully developed male external genitalia. The records of 11 children with CAH and 46XX karyotype but having male phenotype, encountered from 1990 to 2012 were reviewed retrospectively. The age, presenting signs and symptoms, diagnostic studies, surgical procedures, early results and outcome were noted. All patients were evaluated by gender assignment team and the decision of the family was also taken into consideration during gender assignment. Eleven children (mean age 3.64±3years) (range 5days-10years) were enrolled. The main presenting signs were nonpalpable gonads (n=7), hyperpigmentation (n=2), jaundice (n=1) and electrolyte imbalance (n=1). All patients had bilateral nonpalpable gonads and male phenotype with mean phallus length of 4.5±1.7cm. Urethral meatus is located at normal position (n=6) or hypospadiac (n=5). Labioscrotal fusion was complete in all cases and they were classified as4th (n=3) or5th (n=8)degree of virilization according to Prader's classification. All children had CAH and 46XX genotype. Pelvic ultrasound (n=8) and genitocystogram (n=9) were used, and genitocystoscopy was performed (n=6). Male gender was assigned in most (n=10) and female gender in one. Corrective surgery could be performed in 10 patients. The surgical procedures were hysterectomy+bilateral salphingo-oophorectomy+vaginectomy (n=9), chordee release (n=3) and then second-stage (n=2) or one-stage urethra repair (n=1), and pure one-stage urethra repair (n=1). One case underwent surrenalectomy before the diagnosis of CAH. Mastectomy (n=1) and fistula repair (n=3) were additional operations. Only one child could be undergone feminizing genitoplasty and another was lost to follow-up. Unfortunately, most of the children underwent surgery in adverse to genotype because of constituted sexual identity. Children with male phenotype and bilateral nonpalpable gonads should undergo promptly biochemical analyses for CAH and early chromosomal analysis.

Anomalias da diferenciação sexual: representações parentais sobre a constituição da identidade de gênero

O estudo investigou as representações de mães e pais sobre a constituição de identidade de gênero em crianças nascidas com diagnóstico de Anomalias da Diferenciação Sexual (ADS). As ADS são distúrbios da diferenciação sexual que resultam em ambiguidade genital na criança. O estudo tem um delineamento qualitativo, com três mães e três pais de crianças nascidas com ADS, de diferentes idades. Utilizou-se a entrevista narrativa e a análise de conteúdo para coleta e análise dos dados. Os resultados mostraram que mães e pais entendem que a identidade de gênero se constitui através da anatomia da genitália, do sexo de criação com o qual a criança é educada e do reconhecimento social que a criança recebe no ambiente em que vive.

Normalizing Atypical Genitalia: How a Heated Debate Went Astray

AbstractIn a series of essays and letters published in 2010, commentators in bioethics debated the ethics of two interventions that aim to prevent or treat a symptom of a genetic condition called congenital adrenal hyperplasia, which can cause “virilization” in affected baby girls—the development of atypical, sometimes masculine‐appearing, genitals. Surgeries are often performed to try to “normalize” both the appearance and the function of affected girls’ genitals, and a drug thought to prevent virilization is sometimes prescribed to pregnant women who are likeliest to be carrying an affected fetus. The CAH debates suggest that there is profound disagreement in the field about whether preventing or treating virilization is an appropriate goal of medicine—or, indeed, parenting. Of course, that disagreement has its roots in ongoing debates about how to understand and react to a range of anatomical and behavioral differences, from short stature to deafness to hyperactivity, as well as ongoing debates about the limits of autonomy—in this case, parental autonomy, which is all the more complex. These issues are at the heart of bioethics. Yet it can be very difficult for us to talk and write respectfully and clearly about them.Here, I recount the debates, show how they lost focus, and attempt to explain why the question about how parents and physicians should respond to atypical genitalia in children is so important and difficult. I argue that it is not a question that should be answered based on a single principle or philosophical commitment. No one principle can do all of the work. For each individual or family that faces it, the question is shaped by details about particular interventions aimed at altering a particular difference and offered in a particular social and family context. Scholars in bioethics who hold an especially strong commitment to any one principle should advocate for their views, but they must also make room for and respect the kind of pragmatic, particularized decision‐making that parents sometimes engage in.

Extraordinary penil trauma in children: dog bite case

Dog bite injury is an uncommon trauma of the external genitalia in children. In our case, after the debridement of wound and immunization for rabies, we surgically repaired the penoscrotal circular injury which was including cutaneous and subcutaneous tissue. Treatment of the injuries of external genitalia may be successful by early intervention, in terms of cosmetic and functional outcomes.

On Cultural Sanctions for Shaping Our Children's Genitalia

On Cultural Sanctions for Shaping Our Children's Genitalia