Presentation
[…] and the mitral cells present in the olfactory bulb. [emedicine.medscape.com]
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinol Metab (Seoul). 2015 Dec;30(4):456-66. doi: 10.3803/EnM.2015.30.4.456. Review. [medlineplus.gov]
A note from Cleveland Clinic Kallmann syndrome can present some challenges during puberty. But when diagnosed and treated early, many people with the condition enjoy improved reproductive health and a better quality of life. [my.clevelandclinic.org]
Treatment
If not enough of these hormones are made, the child will not enter puberty and will not be able to have children of their own without special treatment. [rch.org.au]
Management and Treatment How is Kallmann syndrome treated? Kallmann syndrome is usually treated with hormone replacement therapy. [my.clevelandclinic.org]
Without treatment, most affected men and women are unable to have biological children (infertile). In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). [medlineplus.gov]
Late treatment of hypogonadism thus leads to an increase in fracture and cardiovascular risks, and also to earlier aging. [elsevier.es]
FDA OKs Natesto, First-Ever Nasal Testosterone Treatment. Medscape Medical News. Available at http://www.medscape.com/viewarticle/825793. Accessed: May 29, 2014. [emedicine.medscape.com]
Etiology
By contrast, our second patient consulted a doctor at 18 years of age, but the etiology of primary amenorrhea was not investigated at the time, and was simply treated as a symptom. [elsevier.es]
Pathophysiology
From the pathophysiological viewpoint, it is explained by a defect in the migration of GnRH-secreting fetal neurons from the olfactory placode (where they originate) to the medial basal hypothalamus, where they represent the GnRH pulse generator. [elsevier.es]
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann''''s syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct. 19(5):521-39. [QxMD MEDLINE Link]. [Full Text]. [emedicine.medscape.com]
Prevention
Misplacement of GnRH-producing neurons in the brain prevents the production of other sex hormones, which interferes with normal sexual development and causes the characteristic features of hypogonadotropic hypogonadism. [medlineplus.gov]
In the first case, late diagnosis was due to a psychosocial and cultural component which had previously prevented the patient from consulting a specialist. [elsevier.es]
A second patient was found to have a different homozygous mutation in the LH beta subunit gene; the mutation prevented LH heterodimerization and secretion. [emedicine.medscape.com]