Standard obstetric care but delivery should be in a tertiary center. The external sex organs may not match the internal sex organs or genetic sex. A clear understanding of the basis of sex differentiation and timely consultation with a pediatric endocrinologist is critical in the evaluation and determination of sex of rearing in a newborn who has ambiguous genitalia. Accurate diagnosis was limited by the fetal position, presentation and amniotic. Diagnostic approach to the newborn with ambiguous genitalia. July 2015 when an infant is noted to have ambiguous genitalia, the responsible physician should. Ambiguous genitalia causes, signs, symptoms, diagnosis. The term dsd has replaced outdated phrases such as hermaphrodite or pseudohermaphrodite based on a 2006 consensus statement on the management of intersex disorders.
A practical approach to ambiguous genitalia in the newborn period the evaluation and management of neonates with ambiguous genitalia requires sensitivity, efficiency, and accuracy. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with. Consensus statement on management of intersex disorders. Sex karyotype and a 17ohp level may suffice in the initial evaluation of. Sex assignment in newborns depends on the anatomy of the external genitalia, despite this stage being the. Treatment of a neonate with ambiguous genitalia should be performed by a multidisciplinary team, including geneticists, pediatric endocrinologists, and pediatric urologist. Ambiguous genitalia at birth the external genital organs look unusual, making it impossible to identify the sex of the newborn from its outward appearance. Request pdf a clinical approach to diagnosis of ambiguous genitalia disorders of sex development dsd are a sensitive and stressful condition for the. Disorders of sex developmentambiguous genitalia journal of.
Ambiguous genitalia leeds teaching hospitals nhs trust. Dsds with genital abnormalities sufficient to prompt evaluation occur in approximately 1 in to 4500 live births. The complex group of disorders that cause ambiguous genitalia are called disorders of sex development dsd. Guidelines for the traditional approach have compared anatomic potential for fertility, sexual function, and endogenous gonadal hormone production. We will not use the term to refer to conditions in which genitalgender discordance is not expected, such as klinefelter syndrome, turner syndrome, undescended testes, or isolated, nonsevere forms of hypospadias.
The physician must act quickly to detect lifethreatening conditions, and make the parents. Ambiguous genitalia childrens hospital of philadelphia. Infants born with genitals that do not appear typically male or female, or who have an appearance discordant with the chromosomal sex, are classified as having a disorder of sex development dsd. A baby born with ambiguous genitalia always causes immense distress and concern. Many of these individuals present as newborns with an atypical genital appearance often termed ambiguous genitalia. A multidisciplinary problem to discover that there is uncertainty about the sex of ones newborn baby is devastating and often incomprehensible for most parents. The mothers egg cell contains an x chromosome, while the fathers sperm cell contains either an x or a y chromosome. A clinical approach to diagnosis of ambiguous genitalia ncbi.
The approach to these neonates is facilitated by a multidisciplinary team including urology, endocrinology, genetics, and psychiatry or psychology. Ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly either male or female. A practical approach to ambiguous genitalia in the newborn. Disorders of sex development dsds are defined as conditions involving the following elements. Ambiguous genitalia pediatrics clerkship the university. Children who are born with ambiguous genitalia may fall into one of the following groups. Should we change our approach to ambiguous genitalia. In a subsequent report of forty 46,xy infants born with ambiguous genitalia in the dominican republic over a 10year period, five percent were diagnosed with steroid diagnosis and treatment of disorders of the androgen receptor view in chinese. Editorial diagnostic approach in prenatally detected genital abnormalities. Approach to a case of ambiguous genitalia authorstream. The following principles should guide the management of a neonate with ambiguous genitalia. Evaluation of the infant with atypical genitalia disorder. Approach to assigning gender in 46,xx congenital adrenal.
Surgical treatment of high urogenital sinuses using the anterior sagittal transrectal approach. According to the current view, the genital tubercle is the. Ambiguous genitalia is a sample topic from the select 5minute pediatrics topics. A small, hypospadiac phallus and unilaterally undescended gonad. Suggested approach to the evaluation of newborns who have hepatomegaly with or without hyperbilirubinemia. Ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly male or female. In this section the authors outline a practical approach to the neonate born with a disorder of sex development dsd. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. Global disorders of sex development update since 2006. A practical approach to ambiguous genitalia in the newborn period.
Intersex is an umbrella term used to describe a wide range of natural bodily variations. Sep 15, 2014 approach to a case of ambiguous genitalia 1. The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. Findings normal urethral anatomy, a mullerian remnant in a male, a common urogenital sinus, or normal female internal genitalia ct and mri may help identify internal anatomy endoscopic examination of genitourinary tract. Disorders of sex development dsd encompass chromosomal dsd, 46,xx dsd, and 46,xy dsd. This means that the visible genitalspenis and testicles or vagina and clitorisarent clearly either male or female. Apr 18, 2018 ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly either male or female. Evaluation of chromosomal sex, gonadal sex, and phenotypic sex must be initiated promptly so that gender assignment can be made as quickly as possible.
Doctors and nurses who help with delivery may notice the signs of ambiguous genitalia in your newborn. Request pdf a clinical approach to diagnosis of ambiguous genitalia disorders of sex development dsd are a sensitive and stressful condition for the family as well as the treating physician. The most common cause of 46 xx dsd is congenital adrenal hyperplasia cah. Pdf on apr 1, 2016, murtaza kamal and others published approach towards a neonate with ambiguous genitalia find, read and cite all the. Us is the primary modality for evaluation of the internal reproductive organs, whereas genitography and voiding cystourethrography are used for evaluation of urethral and vaginal tracts and fistulas. Followup scans every 4 weeks to monitor growth and evolution of genitalia. It has to be emphasised that handling of this situation needs to be performed by senior staff with experience as major mistakes can occur in the diagnosis and interpretation of results and in the correct assignment of sex. Such variations may involve genital ambiguity and combinations of chromosomal genotype and sexual.
Pdf on apr 1, 2016, murtaza kamal and others published approach towards a neonate with ambiguous genitalia find, read and cite all the research you need on researchgate. Approach to assigning gender in 46,xx congenital adrenal hyperplasia with male external genitalia. Early in fetal development, the tissue that will become the gonads ovaries or testes is undifferentiated and has the potential to become either ovaries or testes, depending on the genetics of the fetus. The genetic sex of a child is determined at conception. Ambiguous genitalia select 5minute pediatrics topics. Included are development of ambiguous genitalia, congenital disjunction of internal and external sex anatomy, incomplete development of sex anatomy, sex chromosome anomalies and disorders of gonadal development. Evolving approach and changing perspectives edited by peter a.
Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. A clinical approach to diagnosis of ambiguous genitalia request. Early assessment of ambiguous genitalia archives of. At initial presentation, regular electrolytes, prefeed glucose concentrations, and regular blood pressure monitoring should be undertaken.
The local team has a key role in coordinating the initial assessment and investigations, managing a clinical emergency, and supporting parents. Even in todays world in the developing countries, a child born with ambiguous genitalia is associated with stigma and often kept hidden from the. While clitorectomies generally yield good cosmetic results, they often result in. Following undertaking a detailed history and examination which must include palpation for gonads, the next step is to organise specific investigations. A total of 18 children with ambiguous genitalia have been evaluated and treated in the past two years including nine females with virilizing adrenogenital syndrome, three infants with mixed gonadal dysgenesis, two infants with dysgenetic male pseudohermaphroditism, two males with severe perineal hypospadias, bifid scrotum, and undescended. The purposes of this paper are to provide a brief overview of male sexual dysmorphogenesis in man and a substantive discussion of congenital androgen insensitivity under the following headings.
Disordersdifferences of sex development dsds for primary. A recent major change in dsd care has been to encourage a male assignment for 46,xy infants with ambiguous genitalia who have evidence of testicular function and in utero central nervous system androgen exposure. Evaluation and management of disorders of sex development. The genitals may not be wellformed or the baby may have characteristics of both sexes.
An infant with ambiguous genitalia presents a medical emergency. This condition can be caused by various disorders of sexual differentiation or intersex disorders. But with the growing improved understanding, increasing awareness and advancement in medical and surgical combined approach, physicians have now become sensitive to the issues involved in the judicious management of such children. For example, a baby can have an enlarged clitoris that looks more like a small penis, and fusion of the labia so that they look more like a scrotum.
Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist. Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or midshaft hypospadias with undescended testis. In the setting of ambiguous external genitalia or a discrepancy between the external genitalia and the chromosomal sex, evaluation of the internal genitalia is of the utmost importance1. In contrast, assignment of virilized 46,xx dsd patients remains female when ovaries and internal organs are present, regardless of. The term ambiguous genitalia means that a newborn babys genitals look different than the genitals of most boys or girls. The complex group of disorders that cause ambiguous genitalia are called disorders. Within the medical community, hermaphrodites are often referred to as having ambiguous genitalia. Ambiguous genitalia can be a traumatizing experience for parents. Discuss a diagnostic approach for the evaluation of children with ambiguous genitalia and appropriate gender assignment.
The evaluation and management of neonates with ambiguous genitalia requires sensitivity, efficiency, and accuracy. Ambiguous genitalia symptoms and causes mayo clinic. Approach to the infant with ambiguous genitalia canadian. Evaluation of the infant with atypical genitalia disorder of. Parents and doctors cannot tell right away what the newborns sex is. The cause helps guide treatment and decisions about your babys gender. Expert testing is needed to determine the diagnosis, sexual. A clinical approach to diagnosis of ambiguous genitalia. Ambiguous genitalia guidelines paediatric innovation. This is a form of dsd see below and refers to a minority of babies where it is not possible to assign sex based on the clinical examination. Using this technique they accomplished fetal sexing in 366 cases with an overall accuracy rate of 95. There are many possible causes of these conditions. Mar 11, 2017 a practical approach to ambiguous genitalia in the newborn period the evaluation and management of neonates with ambiguous genitalia requires sensitivity, efficiency, and accuracy. Family history parental consanguinity and relatives with ambiguous genitalia, primary amenorrhea, early death, medical issues.
When determining surgical approach, preserving fertility is considered less important than addressing cosmetic and social factors. Ambiguous genitalia diagnosis and treatment mayo clinic. Extreme sensitivity is required, and ideally the baby should be managed in a tertiary. Approach the initial management of a neonate with ambiguous genitalia is a social and clinical emergency. Inherent in the care is disclosure to the parents, and later, progressively to the patients. Early assessment of ambiguous genitalia archives of disease. Genitalia can be defined as ambiguous when it is not possible to categorize the gender of the child based on outward genital appearance.
Diagnosis and management of the infant with ambiguous. Clinical features, differences in sex development, discordant, disorders of sex development, genital ambiguity, intersex, sex differentiation. Research papers systematization of ambiguous genitalia. Diagnosis and management of the infant with ambiguous genitalia. Research papers systematization of ambiguous genitalia zograb makiyan. Approach to a case of ambiguous genitalia authorstream presentation.
Introduction the birth of a baby with ambiguous genitalia can cause great apprehension for the family as well as for healthcare providers. Imaging plays an important role in depicting the internal organs and urogenital anatomy in children with ambiguous genitalia. The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. But with the growing improved understanding, increasing awareness and advancement in medical and surgical combined approach, physicians have now become sensitive to the issues. Testosterone produced from leydig cells promotes differentiation of the wolffian ducts and hence the internal male genitalia vas deferens, epididymis, and seminal vesicles. Ambiguous genitalia in neonates approach bmj best practice. Disorders of sex development bioline international. When the external genitalia do not have the typical anatomic appearance of normal male or female genitalia, the condition is known as ambiguous genitalia. Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl. And, the infants external sex organs may not match his or her internal sex organs or genetic sex. An enlarged phallus with bilaterally impalpable gonads. Pdf approach towards a neonate with ambiguous genitalia.
The presence of ambiguous genitalia is a medical emergency, and pituitary and adrenal. Apr 08, 2020 ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly either male or female. The physician must act quickly to detect lifethreatening conditions, and make the parents comfortable with the situation. Initial assessment and investigation auckland city hospital.
In a neonate with ambiguous genitalia, a catheter can be inserted into the urethra contrast is injected to outline the internal ductal anatomy. Even in todays world in the developing countries, a child born with ambiguous genitalia is associated with stigma and often kept hidden from the society for the fear of shame and the stress attached. If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. Apr 18, 2018 ambiguous genitalia is usually diagnosed at birth or shortly after. Intersex people are born with sex characteristics including genitals, gonads and chromosome patterns that do not fit typical binary notions of male or female bodies. Practitioners faced with this prenatal finding have a variety of genetic tests available to them. It is paramount that clear explanations and investigations are commenced promptly, and that no attempt is made to guess the sex of the baby. A clinical approach to diagnosis of ambiguous genitalia kashish khanna, shilpa sharma, devendra k gupta department of pediatric surgery, all india institute of medical sciences, new delhi, india. Based on a consensus meeting on dsd, published in 2006, the following classification was devised. In most cases of ambiguous genitalia, surgical plished as early as 3 weeks of age without significant complications. A timely approach must be sensitive and attend to the psychosocial needs of the family. This incongruence can often manifest as external genitalia that are neither overtly male nor female, termed ambiguous genitalia. To view other topics, please sign in or purchase a subscription. Normal female internal structures uterus, ovaries, fallopian tubes, but masculinized external genitalia.