title: Unusual association of turner syndrome and hypopituitarism in a Tunisian family.
abstract: OBJECTIVE
  Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them.
  
  
  METHODS
  Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed.
  
  
  RESULTS
  Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases.
  
  
  CONCLUSIONS
  Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members.
authors.affiliation: Department of Life Sciences, Faculty of Sciences, Sfax, Tunisia. Electronic address: noura.bougacha@gmail.com.
authors.forename: N
authors.initials: N
authors.lastname: Bougacha-Elleuch
authors.affiliation: Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: elleuch_mouna@yahoo.fr.
authors.forename: M
authors.initials: M
authors.lastname: Elleuch
authors.affiliation: Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: nadiacharfi1@yahoo.fr.
authors.forename: N
authors.initials: N
authors.lastname: Charfi
authors.affiliation: Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: fatmamnif05@yahoo.fr.
authors.forename: F
authors.initials: F
authors.lastname: Mnif
authors.affiliation: Genetic Department, Medicine Faculty, Sfax, Tunisia. Electronic address: nbelguith@yahoo.fr.
authors.forename: N
authors.initials: N
authors.lastname: Belghith
authors.affiliation: Genetic Department, Medicine Faculty, Sfax, Tunisia. Electronic address: abdelhedi_f@yahoo.fr.
authors.forename: F
authors.initials: F
authors.lastname: Abdelhedi
authors.affiliation: Genetic Department, Medicine Faculty, Sfax, Tunisia. Electronic address: hassen.kamoun@yahoo.fr.
authors.forename: H
authors.initials: H
authors.lastname: Kammoun
authors.affiliation: Pediatrics Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: mongia.hachicha@rns.tn.
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
authors.affiliation: Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: mnifmouna@yahoo.fr.
authors.forename: M
authors.initials: M
authors.lastname: Mnif
authors.affiliation: Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address: mohamed.abid@rns.tn.
authors.forename: M
authors.initials: M
authors.lastname: Abid
mesh_terms: D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D004652:Empty Sella Syndrome / Q000235:genetics; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007018:Hypopituitarism / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D010641:Phenotype; D010907:Pituitary Hormones / Q000097:blood; D014416:Tunisia; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D010907:Pituitary Hormones
keywords: FISH; Hypopituitarism; Karyotype; Turner syndrome