Septooptic dysplasia spectrum genetic and rare diseases. Kallmann syndrome ks is a condition that causes hypogonadotropic hypogonadism hh and an impaired sense of smell. Kallmann syndrome causes, symptoms, diagnosis, treatment, pathology duration. Etudes sur les dysraphies cranioencephaliques, arch neurol neurochir psychiatr, 1954. Kallmann syndrome hypogonadotropin eunuchoidism is the most frequent form of isolated gonadotropin deficiency a rare xlinked recessive disease caused by a defect in a cell adhesion protein that participates in the migration of the gnrh neurons. Ks is often diagnosed at puberty due to lack of sexual development. To distinguish it from other forms of hypogonadotropic hypogonadism, kallmann syndrome has the additional symptom of a total lack of sense of smell or a reduced sense of smell. Temas actualidad 1bianca ethel gutierrezamavizca, 2. Septooptic dysplasia sod, is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum a midline part of the brain. Rare familial recurrence has been reported, suggesting at least one genetic form. Septooptic dysplasia has been linked to young maternal age.
Xxvi, 1 eneroabril 2011 c o l e g i o m e x i c a n o d e u r o l g i a n a c i n a l, a. Magnetic resonance imaging mri shows hypoplasia or aplasia of the olfactory bulbs. Pdf kallmannde morsier syndrome ks is a genetic disease of the olfactory system characterized by the association of hypogonadotropic hypogonadism. Pdf kallmann syndrome ks is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. Kallmann syndrome refers to the association of hypogonadotropic hypogonadism, due to gnrh deficiency, with anosmia or hyposmia. Jun 22, 2016 kallmann syndrome ks is a condition that causes hypogonadotropic hypogonadism hh and an impaired sense of smell. Kallmann syndrome genetic and rare diseases information. Kallmann syndrome european journal of human genetics.
Nieschlag, in reference module in biomedical sciences, 2015. Septooptic dysplasia is a disorder of early brain and eye development. Differential diagnosis there is no convincing evidence that kallmann syndrome and isolated gnrh deficiency i. Two of these features need to be present for a clinical diagnosis only 30% of patients have all three. Signs and symptoms may include blindness in one or both. Kallmann syndrome clinical and molecular genetic features in finland eevamaria laitinen academic dissertation to be publicly discussed, with the permission of the faculty of medicine, university of helsinki, in the niilo hallman auditorium, childrens hospital, on september 14th 2012, at 12 noon helsinki 2012. The condition affects both males and females and causes a failure in puberty and infertility. The syndrome is sometimes considered as three separate entities, named kallmann syndromes 1, 2, and 3. Hh affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropinreleasing hormone gnrh. Temas actualidad 1bianca ethel gutierrezamavizca, 2 sindrome.
It is now known that the rare xlinked form of the maestrekallmande morsier syndrome is caused by mutation of the kal 1 gene encoding anosmin 1 a cell adhesion molecule with branchpromoting and. These normally originate in olfactory tissues and migrate to the hypothalamus. Kallmann syndrome a form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. Impaired sense of smell is caused by the absence of the olfactory. Gustavo aldereguia lima, cienfuegos, cienfuegos, cuba, cp. Jul 11, 2018 septooptic dysplasia is a disorder of early brain and eye development.
Kallmann syndrome was first described by name in a paper published in 1944 by franz josef kallmann, a germanamerican geneticist. Gonadotropinreleasing hormone, gnrh neuron migration, olfactory neuron migration, gonadotropin, deficiency, hypogonadism, idiopathic hypogonadotropic hypogonadism, kallmann syndrome, primary amenorrhea. Aspectos geneticos y variantes fenotipicas 1bianca ethel gutierrezamavizca, 2luis e. Spesso sono presenti anche perdita del visus e malformazioni cerebrali di. Case presentation elodia rivas alpizar 1 maidelin garces saborit caridad hernandez gutierrez2 odalis yanes izray 1 hospital general universitario dr. Kallmann syndrome an overview sciencedirect topics. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism.1274 970 25 1082 1177 1245 1261 1599 386 1232 767 772 1636 1331 1539 534 340 855 1525 1471 431 1608 693 91 579 1003 196 1421 20 1592 1302 552 204 705 897 221 1258 524 1225 1260 449 981