Pdf in this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management. Some of the conditions shown on the flow chart in, figure 12 do not manifest with ambiguous genitalia. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation. The initial management of a neonate with ambiguous genitalia is a social and clinical emergency. Diagnosis and management of the infant with ambiguous genitalia. Management of a 3yearold child with ambiguous genitalia. Polley, jr ann arbor, michigan l proper gender assignment to a neonate born with ambig uous genitalia is a social emergency of the newborn period. 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. This is because psychosexual development is influenced by multiple factors, including the genes involved in sexual development, gender differences in brain structure, prenatal androgen exposure, societal and cultural factors, and family dynamics.
If a sex cannot be assigned from the clinical examination, there are some important messages that should be communicated early and simply to the parents by a senior trainee or consultant 1. 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. Surgical management of ambiguous genitalia in the infant. The birth of an infant with ambiguous genitalia is a medical and psychosocial emergency requiring rapid diagnosis and management. This complex situation requires a strategy of clinical, hormonal, genetic, molecular, and radiographic investigation to determine the etiology of the intersex state and orient the therapeutic approach. Parker, rnc, msn, arnp the infant presenting with ambiguous genitalia is a challenge to both the medical and nursing staff. Surgical management of ambiguous genitalia pubmed central pmc. The case was a 3yearold child admitted in the pediatric surgical department, nalanda medical college and hospital, patna, bihar for investigation and management of his ambiguous genitalia. Surgical management of ambiguous genitalia in the infant and child by arnold g. We will work with you to get any support or help you need, including putting you in contact with other parents whose children have this condition. Considerable debate continues regarding undertaking feminising genitoplasty, but extensive discussion with the family is likely to occur between the dsd team and the parents. Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. The birth of an intersex child prompts a longterm management strategy that involves myriad professionals working with the family. Ambiguous genitalia is a complex, medical and social emergency.
Over a 25year period, 91 children with ambiguous genitalia have received surgical management. 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. Very few infants with ambiguous genitalia have genitals that are so ambiguous that a gender determination is not made at birth. Following the publication of our article about a classic case of sex reassignment, 1 the media attention was rapid and widespread, 24 as was the reaction of many clinicians. Ambiguous genitalia, as the word implies, may make determining the childs gender more difficult. Babies presenting with atypical or ambiguous genitalia should be discussed with the on call consultant and during working hours discussed with consultant paediatrician who is the network centre lead for paediatric endocrinology at each hospital if available appendix 1. The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial. Once an appropriate sex assignment has been made, the next. Academic debate, professional practice, the law and increased political and. In ambiguous genitalia, a bab definitionambiguous genitalia is a condition in which an infantsexternal genitals dont appear to be clearly either male orfemale. Pdf ambiguous genitalia in the newborn charles sultan. There has been progress in diagnosis, surgical techniques, understanding psychosocial issues, and recognizing and accepting the place of patient advocacy.
Imaging children with ambiguous genitalia and intersex states. Ambiguous genitalia in the newborn american academy of. 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. A practical approach to ambiguous genitalia in the newborn period. Pdf ambiguous genitalia, two decades of experience. Volume 41, issue 4, pages a1a4, 205256 june 2017 download full issue. This means that the visible genitalspenis and testicles or vagina and clitorisarent clearly either male or female.
Features and management of these defects are summarized in table 2. The birth of an infant with atypical genitalia presents a unique set of challenging management issues. The identification of ambiguous genitalia at birth is often the cause for significant distress and concern. Outline definitionintroduction human sexual differentiation gonadal development classification of ambiguous genitalia epidemiology principle of management clinical presentation diagnosis history examination investigation definitive management.
Over 95% of causes of ambiguous genitalia with a 46,xx genotype are due to congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency. The complaints depicted that urine was not passing from the tip of penis but through the perineal region since birth. Intersexed persons have a biologicmedical condition that is not uncommon. Standard protocols have stressed the need for early diagnosis, gender assignment, and appropriate surgery in infancy. Etiology, treatment, and nursing implications leslie a. The aim of this study is to highlight some of the challenges in management of ambiguous genitalia in our environment. Ambiguous genitalia at birth the external genital organs look unusual, making it impossible to identify the sex of the newborn from its outward appearance. In children with ambiguous genitalia, surgery may be used to. Early gonadectomy, particularly if they are contained in an inguinal hernia sac. Confidence in the recognition and assessment of atypical or ambiguous genitalia in a newborn will guide the local clinician when deciding on the initial investigations required and is a foundation for subsequent management. Dec 04, 2019 evaluation of a newborn with ambiguous genitalia requires a team effort.
Although many birth defects pose a real threat to life if left uncorrected, the problem of ambiguous genitalia, if poorly or incorrectly handled, leads to a lifetime of unhappiness for both parent and child. The ability to diagnose these conditions has improved greatly in recent years, due to advances in molecular genetics. Copeland few pediatric problems elicit more consternation than an infant born with ambiguous genitalia. Many more babies are raised male now, where there has been undervirilisation of a 46xy baby. Disorders of sexual development dsd are classified into 3 major categories 46,xy dsd, 46,xx dsd, and sex chromosome dsd. Some wanted to comment or ask questions, but many contacted us directly or indirectly, asking for specific guidelines on how to. Diagnosis and management of ambiguous genitalia, indian. Evolving approach and changing perspectives edited by peter a.
Chart illustrates a diagnostic algorithm for the evaluation of children with ambiguous genitalia. Management of infants with ambiguous genitalia reassessed. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. No gonadectomy in patients who are as well informed as possible of the potential malignancy risks. Congenital adrenal hyperplasia is the most common condition leading to inappropriate virilization in females. Initial assessment and investigation auckland city hospital. Expert testing is needed to determine the diagnosis, sexual. Disorders of sex development clinical presentation. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. While clitorectomies generally yield good cosmetic results, they often result in diminished sexual function and sensation because the dorsal neurovascular bundle and the ventral mucosal plate of the corpus spongiosum cannot be preserved. The diagnosis and management of a newborn with ambiguous genitalia is a diagnostic challenge.
Knowing the differential diagnosis of ambiguous genitalia in the neonate will lead. There are many possible causes of these conditions. Ambiguous genitalia in the newborn endotext ncbi bookshelf. Of these, 60 patients underwent extensive clitoral reconstruction consonant with the female assignment. Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. These anomalies include hypospadias, in which the genitalia are clearly malformed, although the sex is unquestionably male. Evaluation of the newborn with developmental anomalies of. In pseudohermaphrodites with female social sex, surgical correction of external genitalia performed in childhood and vaginal dilation with acrylic molds performed when they wished to start having sexual intercourse resulted in best outcome. Early preterm 33 wk weighing 1900g appropriate for gestational age born to g2p1l1 mother by emergency lscs for meconium stained amniotic fluid vigorous at birth did not receive delivery room resuscitation admitted for nnh at 96 hr without any incompatibility no ho any antenatal drug. Diagnosis and management of ambiguous genitalia diagnosis and management of ambiguous genitalia sherman, lori 19970301 00. Evaluation and management in the newborn bonnie mccanncrosby, md division of pediatric endocrinology, baylor college of medicine, texas childrens hospital, houston, tx. It poses challenges for the health professional in the labour ward or in the operating theatre at the time of caesarean section, but, more importantly, it is the cause for significant distress to parents who are about to be. Apr 01, 2012 guidelines for evaluating and managing children born with disorders of sexual development. First, the presumption that children who do not receive genital surgery, and grow up with sexually ambiguous genitalia, will develop a correspondingly ambiguous gender identity.
Ambiguous genitalia american academy of pediatrics. The presence of ambiguous genitalia is a medical emergency, and pituitary. Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Epidemiology and initial management of ambiguous genitalia at birth in germany article pdf available in hormone research 664. The main issue in managing such cases is sex assignment. The surgical management of infants and children with. The term dsd has replaced outdated phrases such as hermaphrodite or pseudohermaphrodite based on a 2006 consensus statement on the management of intersex disorders. Evidence for this effect is scarce, but the lassoing together of gender and genitalia is a quintessentially freudian manoeuvre. Epidemiology and initial management of ambiguous genitalia.
The determination of sex and gender for a child born with ambiguous genitalia is an extremely complex medical and social process. Surgical management of ambiguous genitalia archives of. Following the publication of our article about a classic case of sex reassignment,1 the media attention was rapid and widespread,24 as was the reaction of many clinicians. The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. Disorders of sex development dsds are defined as conditions involving the following elements. Ambiguous genitalia symptoms and causes mayo clinic. The complex group of disorders that cause ambiguous genitalia are called disorders of sex development dsd. Surgical management of ambiguous genitalia in the infant and. Pdf management of ambiguous genitalia in ile ife, nigeria.
Because of the phenotypic variability, some patients are diagnosed in infancy with ambiguous genitalia, while others are not diagnosed until puberty when they present with primary amenorrhea. Guidelines for evaluating and managing children born with. Late gonadectomy performed as soon as puberty has been completed. The management of a newborn with a disorder of sex development dsd presents a unique challenge to both health care providers and families alike. Principles of management of ambiguous genitalia by dr badmus a. Mar 01, 2016 infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Rapid medical evaluation is necessary to uncover and treat potentially lifethreatening illnesses, and to allay the. The birth of any infant with ambiguous genitalia is considered a physical and psychologic emergency. Clinical management of gender identity disorders in children and adults, vol. Diagnosis and management of the infant with ambiguous. What is the appropriate workup for children aged 0 to 24 months with ambiguous genitalia or a dsd. Ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly either male or female.
Rapid medical evaluation is necessary to uncover and treat potentially lifethreatening illnesses, and to allay the psychological stress placed on new parents awaiting. Ambiguous genitalia in the newborn need immediate and rational management. Understanding the mechanisms of sexual differentiation can facilitate this task for the. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. A variety of genetic and environmental factors may influence this development, leading to ambiguous genitalia. Diagnosis and management can however be challenging. The full text of this article is available as a pdf 94k. It is a diagnosis that is shared by as many as 1 percent of the population. If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. Ambiguous genitalia in neonates investigations bmj. Apr 16, 2014 ambiguous genitalia may be a result of a disorder of sexual development dsd, previously called intersex conditions. Management of ambiguous genitalia in pseudohermaphrodites. This article has been cited by other articles in pmc.
Pdf approach towards a neonate with ambiguous genitalia. A small, hypospadiac phallus and unilaterally undescended gonad. Apr 18, 2018 ambiguous genitalia is usually diagnosed at birth or shortly after. A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. Although the longterm management of children with atypical or ambiguous genitalia and other disorders of sex development dsd should be under the auspices of a paediatric endocrine clinic or dsd team, the baby with atypical or ambiguous genitalia is usually born in secondary care. Ambiguous genitalia are a major cause of parental anxiety and can create social problems if not properly managed. Inform the neonatologist on call about any infant with disorders of sex development or ambiguous genitalia. Doctors and nurses who help with delivery may notice the signs of ambiguous genitalia in your newborn. Selected references these references are in pubmed. Ambiguous genitalia in neonates symptoms, diagnosis and. Knowing the differential diagnosis of ambiguous genitalia in the neonate will lead to more appropriate diagnostic evaluation and. Approach to a case of ambiguous genitalia authorstream.
Rapid medical evaluation is necessary to uncover and treat potentially lifethreatening illnesses, and to allay the psychological stress placed on new parents awaiting announcement of their babys sex of rearing. Sowande, olusanya adejuyigbe original article abstract background. Risk factors family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities that can be inherited. Standard protocols have stressed the need for early diagnosis, gender assignment, and appropriate surgery in. Ambiguous genitalia diagnosis and treatment mayo clinic. Persistent mullerian duct syndrome and most cases of pgd are not accompanied by genital ambiguity. Some wanted to comment or ask questions, but many contacted us directly. Ambiguous genitalia guidelines paediatric innovation. This incongruence can often manifest as external genitalia that are neither overtly male nor female, termed ambiguous genitalia. Diagnosis and management of ambiguous genitalia springerlink. The management of ambiguous genitalia has changed over time. The evaluation of these defects must be attended to with the same dispatch as any life threatening anomaly.
Although mostdisorders ofsex developmentdsd areisolated, it is. Recognition and assessment of atypical and ambiguous. Consensus statement on management of intersex disorders. Integrated psychosocial care was the exception rather than the rule.
The etiology underlying genital ambiguity in newborns impacts several aspects of management including recommendations for sex of rearing. The most common disorder of sex development dsd, congenital adrenal hyperplasia cah, results in virilization of a 46,xx female and thus is classified under the heading of 46,xx dsd. Disorders of sex development bioline international. Management of ambiguous genitalia in ile ife, nigeria. Ambiguous genitalia can also be a feature of certain rare, complex syndromes that affect many organ systems. Epidemiology and initial management of ambiguous genitalia at.
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