Pragmatic approach to intersex, including genital ambiguity, in the newborn

Kanthi Bangalore Krishna, Christopher P. Houk, Peter A. Lee

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination. While some disorders of sex development (DSD) sex assignments are relatively straightforward, those with more advanced genital ambiguity and unclear gonadal function represent a major challenge. A child's phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and transcription factors. Any discordance among these processes results in ambiguous genitalia or DSD. Currently, the main categories of DSD are 46,XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Priority is given to rule out more immediate life-threatening disorders like salt wasting CAH. Many centers in the United States lack the comprehensive “team members” and not all conditions necessitate this team approach. This article aims to provide guidance for initial workup and identify the specific conditions for which expert guidance is needed.

Original languageEnglish (US)
Pages (from-to)244-251
Number of pages8
JournalSeminars in Perinatology
Volume41
Issue number4
DOIs
StatePublished - Jun 1 2017

Fingerprint

Disorders of Sex Development
Newborn Infant
XX Disorders of Sex Development 46
Sex Chromosome Disorders of Sex Development
46, XX Testicular Disorders of Sex Development
Ovotesticular Disorders of Sex Development
XY Disorders of Sex Development 46
Sex Differentiation
Genitalia
Karyotype
Fertility
Psychiatry
Transcription Factors
Salts
Hormones
Pediatrics
Psychology

Keywords

  • Ambiguous genitalia
  • Genital ambiguity in the Newborn
  • Intersex

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

Cite this

Pragmatic approach to intersex, including genital ambiguity, in the newborn. / Bangalore Krishna, Kanthi; Houk, Christopher P.; Lee, Peter A.

In: Seminars in Perinatology, Vol. 41, No. 4, 01.06.2017, p. 244-251.

Research output: Contribution to journalArticle

Bangalore Krishna, Kanthi ; Houk, Christopher P. ; Lee, Peter A. / Pragmatic approach to intersex, including genital ambiguity, in the newborn. In: Seminars in Perinatology. 2017 ; Vol. 41, No. 4. pp. 244-251.
@article{ac117da4d5854c35bfd132566b77c22e,
title = "Pragmatic approach to intersex, including genital ambiguity, in the newborn",
abstract = "The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination. While some disorders of sex development (DSD) sex assignments are relatively straightforward, those with more advanced genital ambiguity and unclear gonadal function represent a major challenge. A child's phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and transcription factors. Any discordance among these processes results in ambiguous genitalia or DSD. Currently, the main categories of DSD are 46,XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Priority is given to rule out more immediate life-threatening disorders like salt wasting CAH. Many centers in the United States lack the comprehensive “team members” and not all conditions necessitate this team approach. This article aims to provide guidance for initial workup and identify the specific conditions for which expert guidance is needed.",
keywords = "Ambiguous genitalia, Genital ambiguity in the Newborn, Intersex",
author = "{Bangalore Krishna}, Kanthi and Houk, {Christopher P.} and Lee, {Peter A.}",
year = "2017",
month = "6",
day = "1",
doi = "10.1053/j.semperi.2017.03.013",
language = "English (US)",
volume = "41",
pages = "244--251",
journal = "Seminars in Perinatology",
issn = "0146-0005",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

T1 - Pragmatic approach to intersex, including genital ambiguity, in the newborn

AU - Bangalore Krishna, Kanthi

AU - Houk, Christopher P.

AU - Lee, Peter A.

PY - 2017/6/1

Y1 - 2017/6/1

N2 - The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination. While some disorders of sex development (DSD) sex assignments are relatively straightforward, those with more advanced genital ambiguity and unclear gonadal function represent a major challenge. A child's phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and transcription factors. Any discordance among these processes results in ambiguous genitalia or DSD. Currently, the main categories of DSD are 46,XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Priority is given to rule out more immediate life-threatening disorders like salt wasting CAH. Many centers in the United States lack the comprehensive “team members” and not all conditions necessitate this team approach. This article aims to provide guidance for initial workup and identify the specific conditions for which expert guidance is needed.

AB - The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination. While some disorders of sex development (DSD) sex assignments are relatively straightforward, those with more advanced genital ambiguity and unclear gonadal function represent a major challenge. A child's phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and transcription factors. Any discordance among these processes results in ambiguous genitalia or DSD. Currently, the main categories of DSD are 46,XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Priority is given to rule out more immediate life-threatening disorders like salt wasting CAH. Many centers in the United States lack the comprehensive “team members” and not all conditions necessitate this team approach. This article aims to provide guidance for initial workup and identify the specific conditions for which expert guidance is needed.

KW - Ambiguous genitalia

KW - Genital ambiguity in the Newborn

KW - Intersex

UR - http://www.scopus.com/inward/record.url?scp=85019911064&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85019911064&partnerID=8YFLogxK

U2 - 10.1053/j.semperi.2017.03.013

DO - 10.1053/j.semperi.2017.03.013

M3 - Article

VL - 41

SP - 244

EP - 251

JO - Seminars in Perinatology

JF - Seminars in Perinatology

SN - 0146-0005

IS - 4

ER -