نتایج جستجو برای: kallmann syndrome
تعداد نتایج: 621960 فیلتر نتایج به سال:
Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism
Background: Male idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous clinical rare genetic disorder that can be divided into two forms: Kallmann syndrome (KS) and olfactory normal IHH (nIHH). Nearly half of unknown pathogenic genes related mechanisms have yet to explored.
Kallmann syndrome and normosmic isolated hypogonadotropic hypogonadism (IHH) are developmental disorders characterized by hypogonadotropic hypogonadism that, in the former case, is coupled to loss of the sense of smell. Linkage analyses, deletion mapping and candidate gene approaches uncovered several loci in the pathogenetic mechanism of these diseases (Figure 1). However, loss-of-function mut...
Among male patients affected by Kallmann syndrome, a genetically determined disease due to defective neural migration leading to hypogonadropic hypogonadism and hypo/anosmia, about 40% present the peculiar phenomenon of mirror movements, i.e. involuntary movements mirroring contralateral voluntary hand movements. Several pathogenic hypotheses have been proposed, but the ultimate neurological me...
Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome...
We present a case of Kallmann syndrome in a 33-years-old man. He was unable to sense smell since birth. He showed scale-out results on T&T olfactogram. He displayed non-development of secondary sexual characteristics for the past 20 years. On urological examination, he had sparse pubic hair, right undescended testis, and small penis. Blood investigations showed low basal levels of serum testost...
Background To date, systematic studies on the cause and prevalence of childhood hyposmia are lacking. The causes this olfactory dysfunction can vary from simple adenoid hyperplasia or a condition following covid-19 infection to rare Kallmann syndrome. Regardless entity, disorders not only severely limit children's quality life but also present diagnostic challenge.
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