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  1. Article: Lawson Wilkins and my life: part 1.

    Migeon, Claude J

    International journal of pediatric endocrinology

    2014  Volume 2014, Issue Suppl 1, Page(s) S2

    Language English
    Publishing date 2014-06-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2528691-2
    ISSN 1687-9856 ; 1687-9848
    ISSN (online) 1687-9856
    ISSN 1687-9848
    DOI 10.1186/1687-9856-2014-S1-S2
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  2. Article: Lawson Wilkins and my life: part 3.

    Migeon, Claude J

    International journal of pediatric endocrinology

    2014  Volume 2014, Issue Suppl 1, Page(s) S4

    Language English
    Publishing date 2014-06-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2528691-2
    ISSN 1687-9856 ; 1687-9848
    ISSN (online) 1687-9856
    ISSN 1687-9848
    DOI 10.1186/1687-9856-2014-S1-S4
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  3. Article: Lawson Wilkins and my life: part 2.

    Migeon, Claude J

    International journal of pediatric endocrinology

    2014  Volume 2014, Issue Suppl 1, Page(s) S3

    Language English
    Publishing date 2014-06-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2528691-2
    ISSN 1687-9856 ; 1687-9848
    ISSN (online) 1687-9856
    ISSN 1687-9848
    DOI 10.1186/1687-9856-2014-S1-S3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297).

    Migeon, Claude J

    Hormone research

    2007  Volume 68, Issue 6, Page(s) 298–299

    MeSH term(s) Adrenal Hyperplasia, Congenital/complications ; Adrenal Hyperplasia, Congenital/genetics ; Adrenal Hyperplasia, Congenital/therapy ; Female ; Humans ; Hypertension/etiology ; Hypertension/genetics ; Hypertension/therapy ; Infertility, Female/genetics ; Pregnancy ; Pregnancy Outcome ; Steroid 11-beta-Hydroxylase/genetics
    Chemical Substances Steroid 11-beta-Hydroxylase (EC 1.14.15.4)
    Language English
    Publishing date 2007
    Publishing country Switzerland
    Document type Comment ; Journal Article ; Review
    ZDB-ID 124442-5
    ISSN 1423-0046 ; 0301-0163
    ISSN (online) 1423-0046
    ISSN 0301-0163
    DOI 10.1159/000107652
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 414: Show issues Location:
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  5. Article: Over 50 Years of Progress in the Treatment of the Hypertensive Form of Congenital Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency

    Migeon, Claude J.

    Hormone Research in Paediatrics

    2007  Volume 68, Issue 6, Page(s) 298–299

    Institution Pediatric Endocrine Clinic, Johns Hopkins Hospital, Baltimore, Md., USA
    Language English
    Publishing date 2007-08-27
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Commentary
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000107652
    Database Karger publisher's database

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  6. Article ; Online: Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.

    Massanyi, Eric Z / Gearhart, John P / Kolp, Lisa A / Migeon, Claude J

    Urology

    2013  Volume 81, Issue 5, Page(s) 1069–1071

    Abstract: The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar. However, those with 17β-HSD3 deficiency and 5α-reductase type 2 ... ...

    Abstract The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar. However, those with 17β-HSD3 deficiency and 5α-reductase type 2 deficiency will develop virilization and should undergo gonadectomy after genetic testing before the age of puberty if reared in the female sex. Two sisters were initially diagnosed with complete androgen insensitivity syndrome as young children after testes were discovered during hernia surgery. Virilization occurred in both sisters during puberty, and a diagnosis of 17β-HSD3 deficiency was suspected. Confirmatory diagnosis through gene sequencing identified a heterozygous mutation for both a known splicing mutation and a previously unreported amplification mutation of the HSD17B3 gene.
    MeSH term(s) 17-Hydroxysteroid Dehydrogenases/deficiency ; 17-Hydroxysteroid Dehydrogenases/genetics ; DNA/genetics ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Heterozygote ; Humans ; Infant ; Mutation ; Siblings ; Virilism/enzymology ; Virilism/genetics
    Chemical Substances DNA (9007-49-2) ; 17-Hydroxysteroid Dehydrogenases (EC 1.1.-) ; 17beta-hydroxysteroid dehydrogenase type 3 (EC 1.1.-)
    Language English
    Publishing date 2013-05
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 192062-5
    ISSN 1527-9995 ; 0090-4295
    ISSN (online) 1527-9995
    ISSN 0090-4295
    DOI 10.1016/j.urology.2012.12.024
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    Zs.MO 275: Show issues

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  7. Article ; Online: Review and management of 46,XY disorders of sex development.

    Massanyi, Eric Z / Dicarlo, Heather N / Migeon, Claude J / Gearhart, John P

    Journal of pediatric urology

    2013  Volume 9, Issue 3, Page(s) 368–379

    Abstract: Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in ... ...

    Abstract Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.
    MeSH term(s) 46, XY Disorders of Sex Development/diagnosis ; 46, XY Disorders of Sex Development/etiology ; 46, XY Disorders of Sex Development/physiopathology ; 46, XY Disorders of Sex Development/therapy ; Androgen-Insensitivity Syndrome/metabolism ; Female ; Genitalia, Female/surgery ; Genitalia, Male/surgery ; Gonadal Dysgenesis, 46,XY/embryology ; Gonadal Dysgenesis, 46,XY/genetics ; Humans ; Male ; Patient Care Team ; Reconstructive Surgical Procedures ; Treatment Outcome
    Language English
    Publishing date 2013-06
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2237683-5
    ISSN 1873-4898 ; 1477-5131
    ISSN (online) 1873-4898
    ISSN 1477-5131
    DOI 10.1016/j.jpurol.2012.12.002
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  8. Article: Human sex differentiation and its abnormalities.

    Migeon, Claude J / Wisniewski, Amy B

    Best practice & research. Clinical obstetrics & gynaecology

    2003  Volume 17, Issue 1, Page(s) 1–18

    Abstract: The purpose of this chapter is to review the presentation and management of patients affected by conditions of abnormal sex differentiation. First, the processes of normal sex differentiation are covered, followed by an overview of the various syndromes ... ...

    Abstract The purpose of this chapter is to review the presentation and management of patients affected by conditions of abnormal sex differentiation. First, the processes of normal sex differentiation are covered, followed by an overview of the various syndromes of abnormal sex differentiation, or intersex conditions, that can occur. These disorders are presented according to the following categories: patients who possess a 46,XX chromosome complement, those who possess a 46,XY chromosome complement, and individuals who present with an atypical sex chromosome complement (i.e. 45,XO or 45,X0/46,XY mosaicism). A description of the medical, surgical and psychological treatment options for people affected by various intersex conditions and reared as females are included. Practice points, based on research studies when available, are dispersed throughout the chapter. Additionally, information pertaining to relevant Internet websites and patient support groups are provided, so that medical staff can educate their patients about the availability of these resources.
    MeSH term(s) Disorders of Sex Development/etiology ; Disorders of Sex Development/physiopathology ; Disorders of Sex Development/therapy ; Female ; Genitalia/embryology ; Humans ; Male ; Sex Characteristics ; Sex Chromosome Aberrations ; Sex Differentiation/physiology
    Language English
    Publishing date 2003-04-24
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2050090-7
    ISSN 1521-6934
    ISSN 1521-6934
    DOI 10.1053/ybeog.2003.0354
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Gender role across development in adults with 46,XY disorders of sex development including perineoscrotal hypospadias and small phallus raised male or female.

    Pappas, Kara B / Wisniewski, Amy B / Migeon, Claude J

    Journal of pediatric endocrinology & metabolism : JPEM

    2008  Volume 21, Issue 7, Page(s) 625–630

    Abstract: Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n = 22) ... ...

    Abstract Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n = 22) or female (n = 18). Most participants were confirmed or presumed to be affected by partial androgen insensitivity syndrome (n = 14), partial gonadal dysgenesis (n = 11), or were considered to have a poorly defined case of 46,XY DSD including ambiguous external genitalia (n = 15). Participants retrospectively evaluated their degree of masculinity and femininity during their childhood, adolescence, adulthood, and in the past 12 months of filling out a questionnaire pertaining to their psychosexual development. Participants raised male reported more masculinity than those raised female due to an increase in masculinization during adolescence and adulthood. Participants raised male also reported less femininity than those raised female throughout development. Participants raised female reported more femininity than those raised male due to an increase in feminization during adolescence and adulthood. Participants raised female also reported less masculinity than those raised male throughout development. These data support the proposition that some aspects of gender role (GR), such as masculinity and femininity, are capable of proceeding along female- or male-typic patterns depending on sex of rearing among individuals affected by specific types of 46,XY DSD. Furthermore, regardless of male or female rearing, GR increasingly corresponds with assigned sex as individuals proceed through sexual maturity and into adulthood. These results are consistent with the idea that socialization/learning contributes to GR development in humans in addition to data from others demonstrating endocrine influences.
    MeSH term(s) Adult ; Aging/psychology ; Female ; Gender Identity ; Gonadal Dysgenesis, 46,XY/pathology ; Gonadal Dysgenesis, 46,XY/psychology ; Humans ; Hypospadias/etiology ; Hypospadias/pathology ; Hypospadias/psychology ; Male ; Penis/abnormalities ; Penis/pathology ; Scrotum/abnormalities ; Scrotum/pathology ; Sexual Maturation/physiology ; Socialization
    Language English
    Publishing date 2008-08-28
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem.2008.21.7.625
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2258: Show issues Location:
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  10. Article: Gender identity/role differentiation in adolescents affected by syndromes of abnormal sex differentiation.

    Wisniewski, Amy B / Migeon, Claude J

    Adolescent medicine (Philadelphia, Pa.)

    2002  Volume 13, Issue 1, Page(s) 119–28, vii

    Abstract: Adolescents with abnormal sexual differentiation or intersex conditions present a unique challenge to their healthcare providers. While sex refers to the biologic considerations that specify a person as male or female, gender refers to the sex of ... ...

    Abstract Adolescents with abnormal sexual differentiation or intersex conditions present a unique challenge to their healthcare providers. While sex refers to the biologic considerations that specify a person as male or female, gender refers to the sex of rearing. For the child with an intersex condition, sex may differ from gender, and as that child grows into adolescence, this may lead to many concerns, questions, and decisions. Although gender is usually fixed by adolescence, there will be those adolescents with intersex conditions wishing a gender reassignment during this period. Often a physician is the best resource for information and counsel to these young adults. Although most infants with ambiguous genitalia will have a karyotype done to determine gender identity, there are occasions when a gender discrepancy is not noticed until an adolescent presents with delayed pubarche. Regardless of the age at diagnosis, at adolescence, the physician must the address the medical consequences of infertility, bone health, and hormone replacement in addition to handling the heightened psychological concerns of gender identity during puberty. It is hoped that adolescents with intersex conditions will have the support and information necessary to allow them to live as normal a life as possible.
    MeSH term(s) Adolescent ; Diagnosis, Differential ; Disorders of Sex Development/diagnosis ; Disorders of Sex Development/genetics ; Disorders of Sex Development/psychology ; Female ; Gender Identity ; Humans ; Male ; Sex Characteristics ; Sex Factors
    Language English
    Publishing date 2002-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 1074165-3
    ISSN 1041-3499
    ISSN 1041-3499
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