title: A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
abstract: OBJECTIVE
  The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations.
  
  
  METHODS
  Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes.
  
  
  RESULTS
  At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa.
  
  
  CONCLUSIONS
  This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling.
authors.affiliation: LR11IPT05, Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia.
authors.forename: Lamia
authors.initials: L
authors.lastname: Cherif Ben Abdallah
authors.forename: Youssef
authors.initials: Y
authors.lastname: Lakhoua
authors.forename: Majdi
authors.initials: M
authors.lastname: Nagara
authors.forename: Karima
authors.initials: K
authors.lastname: Khiari
authors.forename: Sahar
authors.initials: S
authors.lastname: Elouej
authors.forename: Olfa
authors.initials: O
authors.lastname: Messaoud
authors.forename: Yosra
authors.initials: Y
authors.lastname: Bouyacoub
authors.forename: Lilia
authors.initials: L
authors.lastname: Romdhane
authors.forename: Zinet
authors.initials: Z
authors.lastname: Turki
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Nejib
authors.initials: N
authors.lastname: Ben Abdallah
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005058:Eunuchism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D017354:Point Mutation; D022821:RNA Splice Sites; D014416:Tunisia
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D022821:RNA Splice Sites