Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior

Castañeyra-Perdomo, Agustín; Castañeyra-Ruiz, Leandro; González-Marrero, Ibrahim; Castañeyra-Ruiz, Agustín; González-Toledo, Juan M.; Castañeyra-Ruiz, María; Carmona-Calero, Emilia M.

doi:10.1016/j.mehy.2013.11.011

Cited by 6 publications

(5 citation statements)

References 23 publications

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“…LH and FSH have direct roles in women's ovaries and men's testes. The lack of LH and FSH means early puberty that cannot start at the right time and eventually ovaries and testes were not managed to show normal fertility functions, which are the maturation and release of egg cells in women and sperm production in men [2][3][4]. The underlying cause of the failure to produce LH and FSH is some disorders in the hypothalamus to release GnRH hormone which in normal condition stimulate the productions of LH and FSH.…”

Section: Uasc Life Sciences 2016mentioning

confidence: 99%

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Kallmann Syndrome: A Case Report

Nuring¹,

Khairun²,

Shofwal³

2019

KLS

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Section: Uasc Life Sciences 2016mentioning

confidence: 99%

“…This anosmia or hyposmia is related to the lack of bulb or olfactory tract hypoplasia. This hypogonadism is caused by a deficiency of gonadotropin-releasing hormone (GnRH) and is a result of the failure of synthetic embryonic migration of gonadotropin-releasing hormone neurons to the forebrain [2,3].…”

Section: Introductionmentioning

confidence: 99%

Kallmann Syndrome: A Case Report

Nuring¹,

Khairun²,

Shofwal³

2019

KLS

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“…It has become increasingly evident that IHH is linked with severe sexual disorders and ED, which may affect physical health and emotional well-being [6,8,11]. Moreover, depression and anxiety have been previously associated with delayed diagnosis and treatment of hypogonadism [10,13]. All of these anomalies may exacerbate psychosexual disturbances in hypogonadal patients.…”

Section: Introductionmentioning

confidence: 99%

Reduced Quality of Life and Sexual Satisfaction in Isolated Hypogonadotropic Hypogonadism

Kałużna

Kompf

Rabijewski

et al. 2021

JCM

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(1) Background: Isolated hypogonadotropic hypogonadism (IHH) is a genetic condition characterized by impaired puberty and fertility. IHH can significantly impact patient health-related quality of life (HRQoL), sexual satisfaction (SS) and mood. (2) Methods: Participants included 132 IHH subjects (89 men and 43 women) and 132 sex- and age-matched controls. HRQoL, depressive symptoms, erectile dysfunction (ED), and SS were assessed in an online survey using the Zung Self-Rating Depression Scale (SDS), 15D instrument of HRQoL (15D), Sexual Satisfaction Questionnaire (SSQ), and 5-item International Index of Erectile Function (IIEF-5). (3) Results: QoL and SS were significantly lower in the IHH group vs. controls. There was a high rate of ED (53.2% vs. 33%, p = 0.008) and depressive symptoms (45.00 ± 17.00 vs. 32.00 ± 12.00, p < 0.001) in patients vs. controls. The age of patients at IHH diagnosis inversely correlated with their overall 15D scores. An alarming non-compliance rate was seen (51.6%). No differences were found between scores of patients receiving hormone replacement therapy (HRT) and untreated subjects in any of the scales. (4) Conclusions: The HRQoL, SS, ED, and depression levels observed in IHH patients, despite HRT, are alarming. Late IHH diagnosis may have a particularly negative impact on HRQoL. More attention should be devoted to HRT adherence and various HRQoL aspects of IHH patients.

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“…Castaneyra-Perdomo et al 2014 suggested that although normally treatment is started in KS patients just before puberty early treatment isadvisable, as brain sexualmaturation occurs long before puberty normally at perinatal age. As brain cells implicated in the development of the olfactory and reproductive system have a rostraland a caudalorigin, and the rostral origin is affected by aplasia in KS and the caudal origin does not seem to be affected, the aim of early treatment of KS is to attain brain sexualmaturation at the most appropriate age possible, which may prevent the eunuchoidal behavior and appearance observed in KS[93].…”

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confidence: 99%

Idiopathic Hypogonadotropic Hypogonadism— An Update on the Aetiopathogenesis, Management of IHH in Both Males and Females—An Exhaustive Review

Kulvinder¹,

Allahbadia²,

Singh³

2016

ASM

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Methods: Asystematic literature search was performed using PUBMED for all English articles up to April 2014. Although this review mainly focuses on published human studies, it also draws attention to where future research should be directed based on animal studies. Results: Besides the 9 known mutations widely quoted for KS namely KAL1, Fibroblast growth factor 8 (FGF8), fibroblast growth factor receptor 1 (FGFR1), prokineticin 2 (PROK2), PROK receptor 2 (PROKR2), WDR11, heparin sulfate-6-O-Transferase (HS6T1), chromodomain helicase DNA binding protein 7 (CHD7) and semaphorin 3A (SEMA 3A), additional mutations in "FGF8 synexpression" group e.g., FGF 17, ILRD, DUSP 6, SPRY4 and FLRT3 have been shown to be involved in CHH, mostly KS besides SEMA 7A. Although traditionally division has been based on anosmic/normosnic criteria, further genes found to cause so called nIHH like Gonadotropin releasing hormone receptor (GNRHR). KISS1, TAC3, TACR3 have also been found to be associated with hyposmia on detailed testing on UPSIT and MRI for olfactory structures revealed absent OB. Further detailed examination of transcription factor genes have revealed involvement of HESX1, TSHZ1, AXL, SOX10 with a strong overlap of in transcription factors in development of septooptic dysplasia (SOD), combined pituitary hormone deficiency (CHPD) and KS. Treatment with rFSH/-hCG gives almost similar results to pulsatile GnRH therapy and should be based on cost factor, availability and in occasional cases specific treatment like kisspeptin therapy. Conclusions: Contrary to the traditional thinking, one shoud reconsider classifying cases of IHH simply on basis of anosmia/normosmia. Deafness calls for looking for mutations in Sox 10/CHD7/ILRD7 considering 38% associ-Open Access K. K. Kulvinder et al. 51 ation of former. Therapy should be individualized based on availability of pulsatile GnRH, cost factor and in recalcitrant cases kp therapy may be of use with kp mutations and NKB mutations.

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Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior

Cited by 6 publications

References 23 publications

Kallmann Syndrome: A Case Report

Kallmann Syndrome: A Case Report

Reduced Quality of Life and Sexual Satisfaction in Isolated Hypogonadotropic Hypogonadism

Idiopathic Hypogonadotropic Hypogonadism— An Update on the Aetiopathogenesis, Management of IHH in Both Males and Females—An Exhaustive Review

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