The child of uncertain sex: 17 years of experience

Journal of Pediatric Surgery, 2007

Aim: The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the pediatric surgeon providing care. The purpose of this study was to evaluate the results of surgical treatment for children with ambiguous genitalia. Patients and Methods: The records of 85 children managed surgically for ambiguous genitalia in our unit from 1988 to 2005 were reviewed retrospectively. Age at surgery, operative procedures, sex of rearing, and outcome were recorded. Results: The intersex committee's decision concerning sex assignment was female for 62 children (75%) and male for 23 children (25%). The etiologies of children reared as female were congenital adrenal hyperplasia (n = 37), male pseudohermaphroditism (n = 12), mixed gonadal dysgenesis (n = 6), true hermaphroditism (n = 4), and Mayer-Rokitansky syndrome (n = 3). Fifteen children with male pseudohermaphroditism, 5 children with congenital adrenal hyperplasia, and 3 children with true hermaphroditism were reared as male. The mean age at surgery was 4.4 years and follow-up period averaged 7 years. Eighteen (29%) patients with feminization procedures and 8 (34%) of 23 patients with masculinization procedures experienced complications and required redo operations. Vaginal stenosis was the most common complication. Conclusion: The surgical management of ambiguous genitalia has always been difficult, and it must be performed by skilled pediatric surgeon. Genital surgery in infancy needs to be reassessed in the light of literature findings revealing poor outcome. In patients who underwent feminizing genitoplasty, vaginal reconstruction should be delayed until adolescence to achieve better cosmetic and functional results. D

firattipdergisi.com

Objective: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions such as salt-losing crisis in congenital adrenal hyperplasia (CAH) and gender assignment. Sex assignment in these newborn continues to be a challenging diagnostic and therapeutic problem. In our study, we aimed to investigate the causes and characteristics of ambiguous genitalia in 21 newborn who were referred to a cytogenetic laboratory. Materials and Methods: Cytogenetic analysis was performed for each case. The cases were analysed by also molecular genetic and interphase FISH technique to exhibit exist Y. Chromosome molecular genetic analysis was performed for Y chromosomal loci (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255). Genomic DNA was extracted from peripheral blood. Results: In all of patient were detected 46,XX and 46,XY karyotype by cytogenetic analysis. 21 cases were successfully analyzed by interphase-FISH. Some individuals carry a Y chromosome but are phenotypically female or one of cases have a female karyotype but are phenotypically male. Conclusion: The correlation between genotype (SRY+/-) and phenotype is still unclear. The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early decision.

Journal of Pediatric Urology, 2018

Annals of Saudi Medicine, 2011

A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matter of an emergency to decide the appropriate sex for rearing and eventually to prevent associated metabolic disturbances. Male and female embryos both have bipotential gonads that will develop into ovaries unless testes-organizing factors encoded by the Y-chromosome induce the gonads to differentiate into a testis. Somatic sexual differentiation will constitutionally develop according to a female phenotype in the absence of testicular activity. The diagnostic procedures require a number of laboratory and radiological investigations, based on a schematic and simple view of normal sexual differentiation. Sexual ambiguity may result in a male fetus either from insufficient secretion of androgens and their metabolites or insensitivity to its effects, or a female fetus with excessive secretion or

Pediatric Surgery International, 2013

Purpose 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. Methods 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. Results Eleven children (mean age 3.64 ± 3 years) (range 5 days-10 years) 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 ± 1.7 cm. Urethral meatus is located at normal position (n = 6) or hypospadiac (n = 5). Labioscrotal fusion was complete in all cases and they were classified as 4th (n = 3) or 5th (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 secondstage (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. Conclusion 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.

Annals of Saudi Medicine, 2004

Background: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hy perplasia [CAH]) and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characteristics of ambiguous genitalia in children who were referred to a cytogenetic laboratory. Patients and Methods: We retrospectively reviewed a total of 120 medical records of patients with a primary indication of ambiguous genitalia that were referred to the cytogenetic lab for karyotyping during the period of 1989 to 1999. Diagnosis was based on a clinical impression from the primary physician, who was primarily a staff pediatrician, endocrinologist and/or pediatric urologist. Results: CAH was the underlying cause of ambiguous genitalia in 41 of 63 patients with ambiguity due to endocrine causes; 39 of these patients showed a 46,XX karyo type and 2 cases were 46,XY (both the 46,XY patients had 3 ß-hydroxylase defi ciency). In 57 patients, ambiguous genitalia were due to congenital developmental de fects. The most common endocrine case of ambiguous genitalia was 21-OH deficiency. Seven patients were classified as idiopathic with six showing the 46,XY and one the 46,XX karyotype. Gender was reassigned at birth or at diagnosis in 15 patients. Conclusion: The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early deci sion. Prenatal DNA testing in at-risk families should be considered and appropriate therapy offered to minimize or prevent genital ambiguity.

Archives of Disease in Childhood, 2004

Pediatric and …, 2004

The Prepubertal Girl Sultan C (ed): Pediatric and Adolescent Gynecology. Evidence-Based Clinical Practice. Endocr Dev. Basel, Karger, 2004, vol 7, pp 23–38 Ambiguous Genitalia in the Newborn: Diagnosis, Etiology and Sex Assignment Charles Sultana, b, Françoise Parisa, ...

2018

When the sex of the newborn child cannot be decided then it is called as ambiguous genitalia. This becomes very much stressful and serious condition for parents and doctors for which immediate and multidisciplinary approach is expected. Hormonal and genetic factors play crucial role in disorder of sex development. Case: We present a case of ambiguous genitalia with omphalocele. Blood sample of new born baby was sent to Cytogenetic laboratory for sex determination. Along with ambiguous genitalia, omphalocele, presence of uterus and testis on sonography, patent ductus arteriosus was present. Karyotyping was done which revealed 46, XY, add 5p (15.3). The hypothesis of relation between karyotyping report and clinical symptoms is presented in this case. Conclusion: Karyotyping is a gold standard method in case of ambiguous genitalia.

European Journal of Endocrinology, 2008

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in many patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, decision making and also therapeutic interventions, a highly specialised team of physicians of different subspecialties and experts for psychosocial care is needed to counsel parents and patients accordingly. This article presents a case with 46,XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refused further genetic testing. The outcome of subsequent pregnancies confirmed the working diagnosis of an autosomal form of 46,XX DSD. H...