PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0022735|hypogonadotropic hypogonadism |
| Sentences | 6 |
| PubMedID- 19489874 | Objective: congenital hypogonadotropic hypogonadism with anosmia (kallmann syndrome) or with normal sense of smell is a heterogeneous genetic disorder caused by defects in the synthesis, secretion and action of gonadotrophin-releasing hormone (gnrh). |
| PubMedID- 25559402 | Context: a heterozygous de novo c.1228g>a mutation (e410k) in the tubb3 gene encoding the neuronal-specific beta-tubulin isotype 3 (tubb3) causes the tubb3 e410k syndrome characterized by congenital fibrosis of the extraocular muscles (cfeom), facial weakness, intellectual and social disabilities, and kallmann syndrome (anosmia with hypogonadotropic hypogonadism). |
| PubMedID- 24083166 | Anecdotal cases of reversal of hypogonadotropic hypogonadism in patients with kallmann syndrome have been reported. |
| PubMedID- 21838873 | It is well known that steinert's syndrome is closely related to some endocrine diseases, such as diabetes mellitus, insulin resistance, thyroidal diseases, adrenal insufficiency, hypogonadotropic hypogonadism and components of men syndromes [16-19]. |
| PubMedID- 25131486 | [micropump infusion of gonadorelin in the treatment of hypogonadotropic hypogonadism in patients with pituitary stalk interruption syndrome: cases analysis and literature review]. |
| PubMedID- 23082007 | Ica due to olfactory bulb agenesis and associated to hypogonadotropic hypogonadism defines kallmann syndrome (ks), in which several gene defects have been described. |
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