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Very rare syndrome that results from a twinning abnormality with endocrine dysfunction.

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Hypopituitarism Microphthalmia Syndrome.

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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 twinning event.

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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).

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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 41:78, 1991.  [PubMed: 1951467]

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