Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency

✍ Scribed by Gershoni-Baruch, R.; Goldscher, D.; Hochberg, Z.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 333 KB
• Volume: 68
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970120)68:2<168::aid-ajmg9>3.0.co;2-l

✦ Synopsis

We report on 2 brothers with ectrodactylyectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-pituitary insufficiency. Both had hypogonadotropic hypogonadism. One brother had partial TSH and prolactin deficiency, and the other had mild primary hypothyroidism, due most probably to irradiation therapy which he had undergone a few years earlier because of Hodgkin disease. The association of hypogonadotropic hypogonadism with EEC was reported once previously. Hypothalamopituitary dysfunction could be considered as yet another manifestation of EEC syndrome. This report reconfirms that EEC syndrome is a pleiotropic trait with reduced penetrance. Alternatively, we may be dealing with a (new) autosomal or X-linked recessive condition.