title: A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.
abstract: BACKGROUND
  Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature.
  
  
  METHODS
  We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21.1q27.3). All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH). We investigated the effect of rhGH treatment on skeletal growth and body proportion via the comparison of auxological data from an untreated 39.7-year-old mother to her 14.8-year-old rhGH-treated daughter. The adult height of the daughter was substantially better than that of the mother [160.3 cm (-0.8 SDS) and 150.0 cm (-2.7 SDS), respectively]; however, the disproportion progressed following rhGH treatment and ultimately led to a worse trunk-to-extremities ratio compared with the mother (4.8 and 3.7 SDS, respectively).
  
  
  CONCLUSIONS
  This rare family confirms the vertical transmission of TS spanning multiple generations. The combination of endogenous estrogen production and exogenous rhGH administration in women with SHOX haploinsufficiency may worsen their body disproportion.
authors.affiliation: Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, and GENNET, Prague, Czech Republic.
authors.forename: Judith
authors.initials: J
authors.lastname: Stoklasova
authors.forename: Jana
authors.initials: J
authors.lastname: Kaprova
authors.forename: Marie
authors.initials: M
authors.lastname: Trkova
authors.forename: Vera
authors.initials: V
authors.lastname: Nedomova
authors.forename: Dana
authors.initials: D
authors.lastname: Zemkova
authors.forename: Jana
authors.initials: J
authors.lastname: Matyskova
authors.forename: Ondrej
authors.initials: O
authors.lastname: Soucek
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sumnik
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004967:Estrogens / Q000008:administration & dosage*; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D013006:Growth Hormone / Q000008:administration & dosage*; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology
chemical_list: D004967:Estrogens; D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone; D013006:Growth Hormone