Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency.
We report on 2 brothers with ectrodactyly-ectodermal 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.
Gershoni-Baruch
R
R
Department of Human Genetics, Rambam Medical Center, Haifa, Israel.
Goldscher
D
D
Hochberg
Z
Z
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis*; D005532:Foot Deformities, Congenital / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis; D007030:Hypothalamo-Hypophyseal System / Q000002:abnormalities*; D007037:Hypothyroidism / Q000150:complications / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D011388:Prolactin / Q000172:deficiency; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D013577:Syndrome; D013972:Thyrotropin / Q000172:deficiency
D011388:Prolactin; D013972:Thyrotropin