Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

At a glance

It is a very rare syndrome that results from a twinning abnormality with endocrine dysfunctions. It is characterized by hypopituitarism and microphthalmia.


Hypopituitarism Microphthalmia Syndrome.



Genetic inheritance

It is a 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.

Clinical aspects

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 hypothalamohypophysial 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).

Anesthetic considerations

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]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.