= PSEUDO–TURNER = MALE TURNER SYNDROME

= phenotype similar to Turner syndrome but with normal karyotype (occurs in both males + females)

Genetics: striking familial incidence

• short / may have normal height
• webbed neck; agonadism / normal gonads
• delayed puberty; mental retardation
• osteoporosis
• retarded bone age
• cubitus valgus
• Skull
  • mandibular hypoplasia with dental malocclusion
  • hypertelorism
  • biparietal foramina
  • dolichocephaly, microcephaly / cranial enlargement
  • webbed neck
• Chest
  • sternal deformity: pectus excavatum / carinatum
  • right-sided CHD (valvar pulmonic stenosis, ASD, eccentric hypertrophy of left ventricle, PDA, VSD)
  • coronal clefts of spine
  • may have pulmonary lymphangiectasis
• Gastrointestinal tract
  • intestinal lymphangiectasia
  • eventration of diaphragm
  • renal malrotation, renal duplication, hydronephrosis, large redundant extrarenal pelvis

DDx: Turner syndrome (mental retardation rare, renal anomalies frequent)