PedAM

Pediatric Disease Annotations & Medicines

Disease	hypogonadism
Phenotype	C0162809\|kallmann syndrome
Sentences	8
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.
PubMedID- 26031747	kallmann syndrome, a form of idiopathic hypogonadotropic hypogonadism, is characterized by developmental abnormalities of the reproductive system and abnormal olfaction.
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- 21682876	Background: kallmann syndrome (ks), comprised of congenital hypogonadotropic hypogonadism (hh) and anosmia, is a clinically and genetically heterogeneous disorder.
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- 22223120	kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell.
PubMedID- 21998597	Although the kallmann syndrome, a type of hypogonadotropic hypogonadism associated with anosmia and other congenital anomalies, has been linked to mutations in the kal1 gene on the x chromosome, only 11–14% of caucasian patients with hypogonadotropic hypogonadism have detectable kal1 mutations [29], reflecting the considerable genetic heterogeneity of this syndrome.
PubMedID- 24083166	Anecdotal cases of reversal of hypogonadotropic hypogonadism in patients with kallmann syndrome have been reported.

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