Because of the complex genetic, hormonal, physical, and social factors involved, determination of fetal sex in cases of ambiguous genitalia is best done postnatally. East and central african journal of surgery east and central african journal of surgery volume number 1 march april 2008. May 11, 2012 concern for ambiguous genitalia or chromosome. Apr 16, 2014 ambiguous genitalia may be a result of a disorder of sexual development dsd, previously called intersex conditions. 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.
Mixed gonadal dysgenesis is most commonly associated with a mosaic 45x46xy karotype. Disorders of sexual development dsd are classified into 3 major categories 46,xy dsd, 46,xx dsd, and sex chromosome dsd. The differential diagnosis of ambiguous genitalia in the. 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. A case of a parthenogenetic 46,xx46,xy chimera presenting. Approach to a case of ambiguous genitalia authorstream. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. This means that the visible genitalspenis and testicles or vagina and clitorisarent clearly either male or female.
Pdf approach towards a neonate with ambiguous genitalia. Ambiguous genitalia in the newborn american academy of. Radiological evaluation of international journal of. 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. Practitioners faced with this prenatal finding have a variety of genetic tests available to them. Parker, rnc, msn, arnp the infant presenting with ambiguous genitalia is a challenge to both the medical and nursing staff. Please note, patient visitors will be limited to no more than one for. The mothers egg cell contains an x chromosome, while the fathers sperm cell contains either an x or a y chromosome. Article pdf available in pakistan journal of medical sciences online 351 january. Sex karyotype and a 17ohp level may suffice in the initial evaluation of. Pendahuluan ambigus genitalia adalah suatu kelainan perkembangan seks yang atipikal secara kromosomal, gonadal, dan anatomis yang umumnya ditandai dengan adanya organ genitalia eksterna yang tidak jelas lakilaki atau perempuan, atau mempunyai gambaran kedua jenis kelamin. If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause.
Journal of indian association of pediatric surgeons. When the external genitalia do not have the typical anatomic appearance of normal male or female genitalia, the condition is known as ambiguous genitalia. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. Ambiguous genitalia result from various disorders of sexual development dsd, a generic term defined as a congenital condition in which development of chromosomal, gonadal, or phenotypic sex is atypical. The group consisted of 18 female pseudohermaphrodites with congenital adrenal hyperplasia cah, 20 male pseudohermaphrodites and 2 true hermaphrodites born with ambiguous external genitalia assigned the female sex ambiguous girls, 14 male pseudohermaphrodites born with completely. Clinical presentation is variable, with obvious ambiguous genitalia at birth in some cases and male or female external genitalia with discordant internal reproductive anatomy in others. Infant presented on the 8th day of life with a serum potassium of 10 meqdl and a serum sodium of 108 meqdl due to congenital adrenal hyperplasia. It was the first attempt at creating a taxonomic classification system of intersex. Hispanic female infant with ambiguous genitalia as a result of 21hydroxylase deficiency.
Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or midshaft hypospadias with undescended testis. Ambiguous genitalia select 5minute pediatrics topics. The external sex organs may not match the internal sex organs or genetic sex. Surgical management of ambiguous genitalia archives of. 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. The frequency of ambiguous genitalia was higher than in previous studies, but, as with any.
Intersex people were previously referred to as hermaphrodites or congenital eunuchs. Apr 18, 2018 ambiguous genitalia is a rare condition in which an infants external genitals dont appear to be clearly either male or female. Apr 18, 2018 ambiguous genitalia is usually diagnosed at birth or shortly after. Etiology, treatment, and nursing implications leslie a. Pdf ambiguous genitaliaa social dilemma in bangladesh. Parents and doctors cannot tell right away what the newborns sex is. Because of the complex genetic, hormonal, physical, and social factors involved, determination of fetal sex in cases of ambiguous genitalia is best done postnatally, incorporating an array of clinical consultants. Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. We report a boy with ambiguous genitalia and hypospadias, showing 46,xy2646,xx4 in peripheral.
Chief, section on pediatric endocrinology, the brooklyn hospital center, new york, ny. The cause helps guide treatment and decisions about your babys gender. Hughes in collaboration with the participants in the international consensus conference on intersex organized by the lawson wilkins pediatric endocrine society and the european society for paediatric endocrinology. The common causes of ambiguous genitalia in genetic females are congenital adrenal hyperplasia cah, maternal ingestion of substances with male hormone activity during pregnancy, male hormone. Possibly no other field requires a broader application of both theoretical and practical knowledge, and certainly few decisions have greater social impact on the future of the patient. Surgical aspects of ambiguous genitalia associated with.
Thus, it is imperative to determine the etiology as quickly as possible when ambiguity is noted. The formation of typical male or female external genitalia results from a number of genetic and physiological events starting with sex determination and. Genitalia can be defined as ambiguous when it is not possible to categorize the gender of the child based on outward genital appearance. Ambiguous genitalia may be a consequence of a disorder of sexual development resulting in a defect at birth where the external genitals do not have a typical resemblance to that of a boy or a girl. The initial management of a neonate with ambiguous genitalia is a social and clinical emergency. Based on a consensus meeting on dsd, published in 2006, the following classification was devised. This condition can be caused by various disorders of sexual differentiation or intersex disorders. Age at presentation, degree of verilization, preoperative diagnostic studies, operative technique, blood loss, outcome, and followup period were the studied variables. The birth of any infant with ambiguous genitalia is considered a physical and psychologic emergency. Hyperprolactinemia, galactorrhea, testicular enlargement, sexual precocity, and hypertrophy of the labia have been associated with primary hypothyroidism. Clinical recognition may be delayed until puberty or adulthood in the latter form 1.
Approach towards a neonate with ambiguous genitalia sugandha arya 1, murtaza kamal 2, harish chellani 3 1 assistant professor, 2 senior resident, 3 consultant, department of pediatrics, vmmc. Female children with ambiguous genitalia in awareness bioline. The genetic sex of a child is determined at conception. Pdf female children with ambiguous genitalia in awarenesspoor. Standard protocols have stressed the need for early diagnosis, gender assignment, and appropriate surgery in infancy. Family history parental consanguinity and relatives with ambiguous genitalia, primary amenorrhea, early death, medical issues. The birth of any infant with ambiguous genitalia is considered a physical and psychologic emergency requiring prompt recognition and treatment for a positive outcome. Sexchromosome discordant chimerism xxxy chimerism is a rare chromosomal disorder in humans. Ambiguous genitalia american academy of pediatrics. Ambiguous genitalia an overview sciencedirect topics. Apr 10, 2020 sexchromosome discordant chimerism xxxy chimerism is a rare chromosomal disorder in humans. The internal genitalia may be composed of dysgenetic testis on one side and a streak gonad on the contralateral side, however there can be varying configurations as well.
In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. Ambiguous genitalia in the newborn endotext ncbi bookshelf. Ambiguous genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. Ambiguous genitalia symptoms and causes mayo clinic. Expert testing is needed to determine the diagnosis, sexual. Ambiguous genitalia in neonates symptoms, diagnosis and. Very few infants with ambiguous genitalia have genitals that are so ambiguous that a gender determination is not made at birth. Early assessment of ambiguous genitalia archives of.
Pdf congenital aberrations of female childrens external genitalia are. The term ambiguous genitalia means that a newborn babys genitals. It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The group consisted of 18 female pseudohermaphrodites with congenital adrenal hyperplasia cah, 20 male pseudohermaphrodites and 2 true hermaphrodites born with ambiguous external genitalia assigned the female sex ambiguous girls, 14 male pseudohermaphrodites born with completely female. Over 95% of causes of ambiguous genitalia with a 46,xx genotype are due to congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency. A clinical approach to diagnosis of ambiguous genitalia ncbi. African journal of reproductive health vol no 4 december 2009. 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. Treatment of psychological problems of 59 children with a physical intersex condition is described. 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. Ambiguous genitalia the journal of clinical endocrinology.
Ambiguous genitalia is a morphologic diagnosis, with various underlying genetic and hormonal etiologies. Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. Pictures of ambiguous genitalia metabolic disorders. In the 19th and 20th century, some members of the medical literary community devised new nomenclature to attempt to classify the characteristics that they had observed. The ability to diagnose these conditions has improved greatly in recent years, due to advances in molecular genetics. A variety of genetic and environmental factors may influence this development, leading to ambiguous genitalia. Ambiguous genitalia constitute a rare phenotypic presentation of the urogenital system that can signal an underlying life threatening disorder. Feb 01, 2008 efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety.
Mar 01, 2016 infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. The clinical phenotype may range from almost normal female external genitalia with mild clitoromegaly, ambiguous genitalia, isolated hypospadius or normal male external genitalia. Imaging plays an important role in depicting the internal organs and urogenital anatomy in children with ambiguous genitalia. Doctors and nurses who help with delivery may notice the signs of ambiguous genitalia in your newborn. The term ambiguous genitalia means that a newborn babys genitals look different than the genitals of most boys or girls. There are many possible causes of these conditions.
A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. Frequency of ambiguous genitalia in 14,177 newborns in turkey. The infant presenting with ambiguous genitalia is a challenge to both the medical and nursing staff. Ambiguous genitalia pediatrics clerkship the university. Ambiguous genitalia constitute a major social and medical emergency. The birth of any infant with ambiguous genitalia is considered a. Journal of taibah university medical sciences volume 5, issue 1. Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl. Professor and division chief, pediatric endocrinology, stanford university school of medicine, ca. Files of all the children with ambiguous genitalia were retrospectively. The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial. A number of syndromes are associated with ambiguous genitalia, for example, smithlemliopitz syndrome characterised by hypocholesterolaemia and elevated 7dehydrocholesterol levels, and resulting from mutations affecting 7dehydrocholesterol reductase, robinow syndrome, denysdrash syndrome, and beckwithwiedemann syndrome.
The complex group of disorders that cause ambiguous genitalia are called disorders of sex development dsd. To view other topics, please sign in or purchase a subscription. 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. The internal genitalia may be composed of a unilateral well formed testis and a streaked gonad or dysgenetic testis on the contralateral side, however there can be varying configurations as well. Longterm psychological evaluation of intersex children. A baby born with ambiguous genitalia always causes immense distress and concern. Ambiguous genitalia is a sample topic from the select 5minute pediatrics topics. Disorders of sex developmentambiguous genitalia journal of. Pdf ambiguous genitalia in the newborn charles sultan. Ambiguous genitalia, as the word implies, may make determining the childs gender more difficult. Hypothyroidism and apparent ambiguous genitalia jama. Ambiguous genitalia leeds teaching hospitals nhs trust.
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