title: Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency.
abstract: The 45,X disorder of sexual differentiation (DSD) is a rare disorder. We report long-term follow-up of a 5-year-old African-American male whose evaluation for short stature revealed a karyotype of 45,X der(X)t(X;Y)(p22.3;p11.2)(SRY+). Presence of the SRY (sex-determining region Y) gene resulted in his male development. His chromosome abnormality also resulted in a deletion of the SHOX (short stature homeobox-containing) gene, which partly contributed to his short stature and skeletal features. He underwent normal spontaneous pubertal development, but his final height remained compromised due to advanced bone age, non-optimal response to recombinant human growth hormone (rhGH) treatment during the period of compliance and ultimately non-compliance with rhGH therapy. To our knowledge, this is the first case report describing long-term follow-up of a 45,X male DSD which highlights the similarities and differences from Turner syndrome females.
authors.forename: Monica
authors.initials: M
authors.lastname: Grover
authors.forename: Shannon
authors.initials: S
authors.lastname: French
authors.forename: Parvin
authors.initials: P
authors.lastname: Yazdani
mesh_terms: D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D057895:Haploinsufficiency / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein