-
Current Opinion in Obstetrics &... Oct 2019To provide a framework for the evaluation of ambiguous genitalia. (Review)
Review
PURPOSE OF REVIEW
To provide a framework for the evaluation of ambiguous genitalia.
RECENT FINDINGS
The most pressing evaluation of ambiguous genitalia is assessment for life-threatening causes such as salt-wasting congenital adrenal hyperplasia (CAH) or syndromes with underlying anomalies such as neurologic or cardiac malformations. A multidisciplinary team, including specialists in Gynecology, Endocrinology, Urology, Genetics, Clinical Psychology/Psychiatry, Radiology, Nursing, Neonatology, and Pediatric Surgery, should be involved. Each patient should be approached in an individualized manner to assign sex of rearing in the most expeditious yet thoughtful means possible.As knowledge on the natural history of sex preference and fertility of individuals with ambiguous genitalia increases, controversy regarding the indication for and timing of genital surgery continues. Considerations include gender identity, future fertility, malignancy risk, infection prevention, and functional anatomy for sexual activity.
SUMMARY
The evaluation of ambiguous genitalia should involve a multidisciplinary team. A combination of history taking, physical examination, laboratory evaluation, and radiologic assessment can assist with the diagnosis. Care should be taken to emphasize karyotypic sex is not equivalent to gender and to use caution with regards to irreversible medical and surgical therapies which may impact fertility and sexual function and nonconform with future sex identity.
Topics: Disorders of Sex Development; Female; Humans; Infant, Newborn; Karyotyping; Male; Physical Examination; Ultrasonography, Prenatal
PubMed: 31425174
DOI: 10.1097/GCO.0000000000000565 -
NeoReviews Apr 2021Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes, ranging from benign to life-threatening. This review provides a summary... (Review)
Review
Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes, ranging from benign to life-threatening. This review provides a summary of these findings. Some diagnoses may lead to delayed sex assignment. A systematic approach to the evaluation of disorders of sex development can allow for timely treatment and family counseling.
Topics: Disorders of Sex Development; Humans; Infant, Newborn
PubMed: 33795399
DOI: 10.1542/neo.22-4-e241 -
Current Opinion in Urology Jul 2006To review the relevant publications since 2004 on surgery for female pseudohermaphroditism. Current controversies exist regarding the timing and technical aspects of... (Review)
Review
PURPOSE OF REVIEW
To review the relevant publications since 2004 on surgery for female pseudohermaphroditism. Current controversies exist regarding the timing and technical aspects of female genital reconstruction and indeed the wisdom of performing these procedures in childhood.
RECENT FINDINGS
Nine articles, published between 2004 and the present time, were found worthy of being included in this review. The topics include surgical technique, short-term and long-term results, voiding function after feminizing genitoplasty, and the timing of surgery.
SUMMARY
Although results for surgery for congenital adrenal hyperplasia have been less than satisfactory when adults who had surgery in childhood are evaluated, all present reports include patients operated on using a variety of techniques many years ago. Rather than abandoning the efforts to repair this malformation early, we favor the continued development of more refined surgical techniques that may yield better results in the future.
Topics: Disorders of Sex Development; Genitalia; Humans
PubMed: 16770127
DOI: 10.1097/01.mou.0000232049.89589.30 -
Pediatrics in Review Jun 1996The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. A clear understanding of the basis of sex differentiation and timely... (Review)
Review
The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. 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. Sex karyotype and a 17-OHP level may suffice in the initial evaluation of female pseudohermaphroditism because most patients will have virilizing CAH. If male pseudohermaphroditism is suspected on the basis of palpable gonads, we routinely obtain a karyotype, basal adrenal steroid levels, and levels of hCG-stimulated serum testosterone and DHT, then consider a testosterone treatment trial. Physicians who care for children who have ambiguous genitalia must appreciate the family's cultural, religious, and psychological needs and avoid determining sex of rearing before accurate diagnosis is reached.
Topics: Anti-Inflammatory Agents; Disorders of Sex Development; Female; Fludrocortisone; Genitalia; Humans; Hydrocortisone; Male; Mixed Function Oxygenases; X Chromosome
PubMed: 8857201
DOI: 10.1542/pir.17-6-213 -
The Journal of Clinical Endocrinology... Mar 2011
Topics: Adrenal Hyperplasia, Congenital; Disorders of Sex Development; Female; Genitalia; Humans; Infant, Newborn; Male; Sex Reassignment Procedures; Terminology as Topic
PubMed: 21378218
DOI: 10.1210/jcem.96.3.zeg33a -
Archives of Disease in Childhood Oct 2017The baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential... (Review)
Review
The baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential for life-long ramifications arising from a consultation led by an unprepared clinician. Language needs to be used carefully with particular clarity when liaising with parents, local health professionals and the specialist multidisciplinary team. 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. The local team have key roles in the initial support for parents as well as managing expectations at a time of great uncertainty. There are numerous different diagnoses that can result in atypical or ambiguous genitalia. The clinical findings should guide the initial investigations, and there are many pitfalls when it comes to interpreting the results. The aim of this article is to provide an initial approach to the management of a baby born with atypical or ambiguous genitalia.
Topics: Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Infant, Newborn; Male
PubMed: 28442467
DOI: 10.1136/archdischild-2016-311270 -
Journal of Pediatric and Adolescent... Oct 2011Ambiguous genitalia is a significant example of a disorder of sexual development, in which the external genitalia do not have the typical appearance of either sex.... (Review)
Review
Ambiguous genitalia is a significant example of a disorder of sexual development, in which the external genitalia do not have the typical appearance of either sex. Although the birth of a child with ambiguous genitalia is rare, the emergent nature of the issue demands that healthcare providers have at least a familiarity with the underlying etiologies, the issues, and the initial approach to diagnosis and management. With numerous etiologies, potential difficulties with reaching a diagnosis, and many challenges with immediate and long-term care, the topic of ambiguous genitalia can be daunting. We provide a review of basic embryology, as well as a classification system for understanding the various etiological causes of ambiguous genitalia. The important clinical aspects of diagnosis and management are also highlighted, and a teaching tool has been included to help the reader (or their learners) to solidify information presented. Our overall goal is to provide practical information on ambiguous genitalia and allow the clinician to apply this information to clinically relevant scenarios.
Topics: Disorders of Sex Development; Humans; Infant, Newborn; Sex Differentiation; Sex Reassignment Procedures
PubMed: 21872773
DOI: 10.1016/j.jpag.2011.02.004 -
Indian Journal of Pediatrics 1997Ambiguity of genitalia in the newborns and children still remains a poorly understood subject and even during the postgraduate teaching programmes, very little attention... (Review)
Review
Ambiguity of genitalia in the newborns and children still remains a poorly understood subject and even during the postgraduate teaching programmes, very little attention has been paid to make this subject popular. There is also no chapter "without tears" on the subject for the proper management and to prevent the agony of the parents resulting from the ignorance and the social stigma. The purpose of this brief communication is to project the practical management of Children with intersex disorders, based on our clinical experience from the pediatric intersex clinic at AIIMS.
Topics: Adolescent; Child; Child, Preschool; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Infant; Karyotyping; Male; Psychosexual Development; Sex Determination Analysis
PubMed: 10771835
DOI: 10.1007/BF02752442 -
Urologia Internationalis 2005Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the... (Review)
Review
Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosis and management of intersex conditions should occur. In children with palpable gonads the presence of a Y chromosome is almost certain, since ovotestes or ovaries usually do not descend. Almost all those patients with male pseudohermaphroditism lack Mullerian structures due to MIS production from the Sertoli cells, but the insufficient testosterone stimulation leads to an inadequate male phenotype. The clinical manifestation of all CAH forms is characterized by the virilization of the outer genitalia. Surgical correction techniques have been developed and can provide satisfactory cosmetic and functional results. The discussion of the management of patients with intersex disorders continues. Current data challenge the past practice of sex reassignment. Further data are necessary to formulate guidelines and recommendations fitting for the individual situation of each patient. Until then the parents have to be supplied with the current data and outcome studies to make the correct choice for their child.
Topics: Diagnosis, Differential; Disorders of Sex Development; Female; Gender Identity; Genitalia, Female; Genitalia, Male; Humans; Male; Urogenital Surgical Procedures
PubMed: 16327292
DOI: 10.1159/000089160 -
Best Practice & Research. Clinical... Apr 2018Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors... (Review)
Review
Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.
Topics: Child; Disease Management; Disorders of Sex Development; Female; Humans; Male
PubMed: 29503125
DOI: 10.1016/j.bpobgyn.2017.11.005