Evidence for the Bauman variant in Kallmann’s syndrome

Kadva, Aban; Di, Wei Li; Djahanbakhch, O.; Monson, John P.; Silman, Robert

doi:10.1046/j.1365-2265.1996.00650.x

Cited by 18 publications

(12 citation statements)

References 21 publications

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“…However, this may be an underestimate as KS patients are not routinely reassessed off replacement therapy. Men with 'variant' KS may unwittingly continue on long-term treatment; indeed, Kadva et al (1996) identified one case during a study of gonadotrophin pulsatility in IHH. Other patients may simply discontinue treatment therapy, realising that it is no longer necessary, and drop out of specialist follow-up.…”

Section: Discussionmentioning

confidence: 99%

Kallmann's syndrome: is it always for life?

Quinton

Cheow

Tymms

et al. 1999

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 99%

Kallmann's syndrome: is it always for life?

Quinton

Cheow

Tymms

et al. 1999

Clinical Endocrinology

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“…This was followed by a report of reversal and proven paternity in a fertile eunuch male (36). In the subsequent two decades, additional case reports emerged documenting reversals (37) including fertility/conception (38,39,40) and two series were published demonstrating pulsatile LH secretion in a subset of CHH men following cessation of treatment (41,42). The first estimate of prevalence of reversal came from Quinton and et al (43) who depicted five cases among a retrospective cohort of 76 CHH patients revealing a prevalence of 5%.…”

Section: Chh Reversibilitymentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

Dwyer

Raivio

Pitteloud

2016

European Journal of Endocrinology

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Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (~10-15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.

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“…di Kadva et al . (1995) suggested a term ‘Bauman variant of Kallmann's syndrome’ after Bauman's description of such a patient (Bauman , 1986).…”

Section: Kallman's Syndrome: Is It Always For Life?mentioning

confidence: 99%