title: Birth Weight in Different Etiologies of Disorders of Sex Development.
abstract: BACKGROUND
  It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action.
  
  
  OBJECTIVE
  The aim of the current study was to determine the BW of children with disorders of sex development (DSD) of different etiologies and to evaluate the effects of androgen action on BW.
  
  
  METHODS
  Data regarding diagnosis, BW, gestational age, karyotype, and concomitant conditions were collected from the International Disorders of Sex Development (I-DSD) Registry (www.i-dsd). BW standard deviation score was calculated according to gestational age. Cases were evaluated according to disorder classification in I-DSD (i.e., disorders of gonadal development, androgen excess, androgen synthesis, androgen action, nonspecific disorder of undermasculinization groups, and Leydig cell defect).
  
  
  RESULTS
  A total of 533 cases were available; 400 (75%) cases were 46,XY, and 133 (25%) cases were 46,XX. Eighty cases (15%) were born small for gestational age (SGA). Frequency of SGA was higher in the 46,XY group (17.8%) than in the 46,XX (6.7%) group (P = 0.001). Mean BW standard deviation scores of cases with androgen excess and androgen deficiency [in disorders of gonadal development, androgen synthesis, and Leydig cell defect groups and androgen receptor gene (AR) mutation-positive cases in disorders of androgen action groups] were similar to normal children with the same karyotype. SGA birth frequency was higher in the AR mutation-negative cases in disorders of androgen action group and in the nonspecific disorders of the undermasculinization group.
  
  
  CONCLUSIONS
  BW dimorphism is unlikely to be explained by fetal androgen action per se. 46,XY DSDs due to nonspecific disorders of undermasculinization are more frequently associated with fetal growth restriction, SGA, and concomitant conditions.
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, 34093 Istanbul, Turkey.
authors.forename: Sukran
authors.initials: S
authors.lastname: Poyrazoglu
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, 34093 Istanbul, Turkey.
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
authors.affiliation: University of Glasgow, Glasgow G51 4TF, United Kingdom.
authors.forename: S Faisal
authors.initials: SF
authors.lastname: Ahmed
authors.affiliation: University of Cambridge, Cambridge CB2 1TN, United Kingdom.
authors.forename: Ieuan
authors.initials: I
authors.lastname: Hughes
authors.affiliation: University of Glasgow, Glasgow G51 4TF, United Kingdom.
authors.forename: Jillian
authors.initials: J
authors.lastname: Bryce
authors.affiliation: University of Glasgow, Glasgow G51 4TF, United Kingdom.
authors.forename: Jipu
authors.initials: J
authors.lastname: Jiang
authors.affiliation: University of Glasgow, Glasgow G51 4TF, United Kingdom.
authors.forename: Martina
authors.initials: M
authors.lastname: Rodie
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, University of Luebeck, 23562 Luebeck, Germany.
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.affiliation: Sophia Children's Hospital, Erasmus Medical Center, 3015 CN Rotterdam, The Netherlands.|Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
authors.forename: Sabine E
authors.initials: SE
authors.lastname: Hannema
authors.affiliation: Adolescent Medicine, Pediatric Division, Azienda Ospedaliera Universitaria Pisana, 56125 Pisa, Italy.
authors.forename: Silvano
authors.initials: S
authors.lastname: Bertelloni
authors.affiliation: Institute of Endocrinology, Prague 1, CZ-116 94, Czech Republic.
authors.forename: Lidka
authors.initials: L
authors.lastname: Lisa
authors.affiliation: Marmara University, 34899 Istanbul, Turkey.
authors.forename: Tulay
authors.initials: T
authors.lastname: Guran
authors.affiliation: University Hospital Ghent, B-9000 Ghent University, Ghent, Belgium.
authors.forename: Martine
authors.initials: M
authors.lastname: Cools
authors.affiliation: University Hospital Ghent, B-9000 Ghent University, Ghent, Belgium.
authors.forename: An
authors.initials: A
authors.lastname: Desloovere
authors.affiliation: Radboudumc Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
authors.forename: Hedi L
authors.initials: HL
authors.lastname: Claahsen-van der Grinten
authors.affiliation: Karolinska University Hospital, SE-171 77 Stockholm, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Nordenstrom
authors.affiliation: University Hospital Schleswig-Holstein, 24105 Kiel, Germany.
authors.forename: Paul-Martin
authors.initials: PM
authors.lastname: Holterhus
authors.affiliation: University Children's Hospital, Charite, Humboldt University, 13353 Berlin, Germany.
authors.forename: Birgit
authors.initials: B
authors.lastname: Kohler
authors.affiliation: Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, 60-572 Poznan, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Niedziela
authors.affiliation: Birmingham Children's Hospital, Birmingham B15 2TT, United Kingdom; and.|Academic Unit of Child Health, University of Sheffield, Sheffield S10 2T4, United Kingdom.
authors.forename: Nils
authors.initials: N
authors.lastname: Krone
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000378:metabolism; D000728:Androgens / Q000378:metabolism; D001724:Birth Weight / Q000502:physiology*; D058490:Disorder of Sex Development, 46,XY / Q000378:metabolism; D012734:Disorders of Sex Development / Q000378:metabolism*; D005060:Europe; D005260:Female; D005317:Fetal Growth Retardation / Q000378:metabolism*; D005865:Gestational Age; D006801:Humans; D017588:Hyperandrogenism / Q000378:metabolism; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D012042:Registries; D012727:Sex Characteristics; D013737:Testis / Q000002:abnormalities / Q000378:metabolism
chemical_list: D000728:Androgens