Very rare syndrome that results from a twinning
abnormality with endocrine dysfunction.
Hypopituitarism Microphthalmia Syndrome.
Very rare syndrome that occurs
in monozygotic twins by loss of an X chromosome early in embryogenesis with
complete separation of 45,X and 46,XX cell lineages at the time of the
After intrauterine growth retardation, twins
present with different physical appearance. Clinical features of the syndrome
combine short stature with microphthalmos and endocrine dysfunction
(hypothyroid, hypoglycemia, and hypothalamo-hypophysial axis anomalies).
Micropenis and ectopic testes can be associated. Mosaicism is observed in
peripheral blood, but not in skin fibroblast cultures (probably by
anastomoses between the placentae of the twins).
No literature available. Careful intraoperative
monitoring is needed. Evaluate endocrine function (clinical, laboratory,
CT/MRI). Fasting should include a concomitant glucose infusion and frequent
blood glucose measurements. Perioperative anesthetic management may need adaptation to
endocrine function, particularly concerning adrenal function that could
necessitate steroid stress dose and fluid regimen adaptation.
Kaplowitz PB, Bodurtha J, Brown J, et al: Monozygotic twins discordant
for Ullrich-Turner syndrome. Am J Med Genet