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Hoefsloot L.h. - One of the best experts on this subject based on the ideXlab platform.
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Kallmann syndrome and schizophrenia: Is there a relationship?
2013Co-Authors: Verhoeven W.m.a., Egger J.i.m., Hovens J.h., N. De ,leeuw, Hoefsloot L.h.Abstract:Objective: In the early fourties of the past century, Kallmann and coworkers reported on a small number of patients, most of them with normal intelligence, in whom a combination of Eunuchoidism and anosmia was present. About two decades later, hypothalamic dysfunction was demonstrated to be etiologically involved. In the early nineties, the responsible gene, KAL1, was cloned and mapped to Xp22.3. Kallmann symdrome (KS) is genetically heterogeneous and most cases are sporadic. In about one-third of the affected patients the molecular basis has been identified. Apart from hypogonadotropic hypogonadism and hypo/anosmia, KS may be associated with an array of phenotypic abnormalities. Methods: A 28-years-old male patient with KS and paranoid schizophrenia was referred to the outpatient clinic for detailed diagnostic evaluation including genetic analysis. The literature was scrutinized for data about psychiatric symptoms in patients with KS. Results: Psychiatric examination disclosed negative psychotic symptoms only, following an acute paranoid schizophrenic episode 1 year before. He used 15 mg aripiprazole daily and testosterone gel 20 mg/gr. Hormonal panel showed extremely low levels of LH and FSH. Otolaryngeal examination disclosed complete anosmia and MRI scanning of the brain demonstrated complete absence of the olfactory bulbs. Neuropsychological assessment revealed subaverage intelligence distinctly disconcordant with premorbid functioning, markedly lowered speed of information processing, and impaired executive and social cognitive functions. Genome wide SNP array analysis and mutation analyses for the KAL1, FGFR1, PROK2, PROKR2, FGF8 and CHD7 genes, disclosed no genetic imbalance or any pathogenic mutation. Conclusion: This is the first report on the co-occurrence of KS and schizophrenia in an adult male patient in whom a complete genetic work-up was performed. Apart from an association between negative psychotic symptoms and odour identification deficits, no other information is available yet about the prevalence of psychiatric symptoms in KS. Further clinical studies are warranted to elucidate a possible increased risk for development of psychiatric, particularly psychotic, symptoms in patients with KS
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Kallmann syndrome and schizophrenia: Is there a relationship?
'Springer Science and Business Media LLC', 2013Co-Authors: Verhoeven W.m.a., Egger J.i.m., Hovens J.h., N. De ,leeuw, Hoefsloot L.h.Abstract:Contains fulltext : 122519.pdf (publisher's version ) (Closed access)Objective: In the early fourties of the past century, Kallmann and coworkers reported on a small number of patients, most of them with normal intelligence, in whom a combination of Eunuchoidism and anosmia was present. About two decades later, hypothalamic dysfunction was demonstrated to be etiologically involved. In the early nineties, the responsible gene, KAL1, was cloned and mapped to Xp22.3. Kallmann symdrome (KS) is genetically heterogeneous and most cases are sporadic. In about one-third of the affected patients the molecular basis has been identified. Apart from hypogonadotropic hypogonadism and hypo/anosmia, KS may be associated with an array of phenotypic abnormalities. Methods: A 28-years-old male patient with KS and paranoid schizophrenia was referred to the outpatient clinic for detailed diagnostic evaluation including genetic analysis. The literature was scrutinized for data about psychiatric symptoms in patients with KS. Results: Psychiatric examination disclosed negative psychotic symptoms only, following an acute paranoid schizophrenic episode 1 year before. He used 15 mg aripiprazole daily and testosterone gel 20 mg/gr. Hormonal panel showed extremely low levels of LH and FSH. Otolaryngeal examination disclosed complete anosmia and MRI scanning of the brain demonstrated complete absence of the olfactory bulbs. Neuropsychological assessment revealed subaverage intelligence distinctly disconcordant with premorbid functioning, markedly lowered speed of information processing, and impaired executive and social cognitive functions. Genome wide SNP array analysis and mutation analyses for the KAL1, FGFR1, PROK2, PROKR2, FGF8 and CHD7 genes, disclosed no genetic imbalance or any pathogenic mutation. Conclusion: This is the first report on the co-occurrence of KS and schizophrenia in an adult male patient in whom a complete genetic work-up was performed. Apart from an association between negative psychotic symptoms and odour identification deficits, no other information is available yet about the prevalence of psychiatric symptoms in KS. Further clinical studies are warranted to elucidate a possible increased risk for development of psychiatric, particularly psychotic, symptoms in patients with KS.2 p
Valdes Socin, Hernan Gonzalo - One of the best experts on this subject based on the ideXlab platform.
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Pasqualini's syndrome (Fertile eunuch syndrome)
2014Co-Authors: Valdes Socin, Hernan GonzaloAbstract:Pasqualini’s syndrome: hypoandrogenism with spermatogenesis Pasqualini and Bur published the first case of Eunuchoidism with preserved spermatogenesis in 1950 in Revista de la Asociación Médica Argentina. The hypoandrogenism with spermatogenesis syndrome included: (a) Eunuchoidism, (b) testis with normal spermatogenesis and full volume, with mature spermatozoids in a high proportion of seminiferous tubes and undifferentiated and immature Leydig cells (c) full functional compensation through the administration of chorionic gonadotropin hormone, while hCG is administered (d) total urinary gonadotrophins within normal limits (e) this definition supposes the normal activity of the pituitary and the absence of congenital malformations in general. A first step in the understanding of the physiopathogeny of Pasqualini syndrome or the so called “fertile eunuch" syndrome was the absence of LH in plasma and urine of patients. The second breakthrough was the functional and genetic studies that validated the hypothesis of a functional deficit of LH in these men: it will then also be described in some women. Different groups including ours demonstrated in these cases a LH with varying degrees of immunological activity but biologically inactive in most of the patients, due to one or more inactivating mutations in the LHB gene. Finally, the full comprehension of Pasqualini syndrome allowed to reverse the hypoandrogenic phenotype and to restore fertility in these patients through the use of chorionic gonadotropin and the modern in-vitro fertility techniques. This conference is an historical review and a tribute to the memory of Rodolfo Q. Pasqualini
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Male genetic hypogonadism: diagnosis and treatment
2014Co-Authors: Valdes Socin, Hernan GonzaloAbstract:The neuroendocrine control of reproduction in mammals is governed by a hypothalamic neural network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital Hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing list of mutations of these genes is responsible for congenital HH. Based on the presence or the absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations (Kallmann syndrome) and Idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). Kallmann syndrome (KS) is a heterogeneous disorder affecting 1 in 5000 to 8000 males, with a 3-5 fold male excess over female. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1 and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7 and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, βFSH and βLH are only present in patients with normosmic IHH. βLH mutations are responsible for Pasqualini 's Syndrome (fertile eunuch) first described in 1950 in males with Eunuchoidism, hypoandrogenism and spermatogenesis in testis biopsies. Congenital primary hypogonadism include several genetic syndromes such as Klinefelter syndrome (XXY), Del Castillo syndrome (only sertoli syndrome).In this lecture, we summarize the reproductive, neurodevelopmental and genetic aspects of IHH and primary hypogonadism in human pathology
Vito De Mitrio - One of the best experts on this subject based on the ideXlab platform.
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severe venous thromboembolism in a young man with klinefelter s syndrome and heterozygosis for both g20210a prothrombin and factor v leiden mutations
Blood Coagulation & Fibrinolysis, 2003Co-Authors: Mario Lapecorella, Renato Marino, Giovanni De Pergola, F A Scaraggi, Vincenzo Speciale, Vito De MitrioAbstract:Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of Eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. In Klinefelter's syndrome there is an increase of certain systemic diseases including venous thromboembolism. An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to androgen deficiency. Only two cases have been reported about the association between Klinefelter's syndrome and well-known congenital or acquired thrombophilias. We report the case of a 39-year-old patient with Klinefelter's syndrome who underwent severe deep venous thrombosis with pulmonary embolism, in the absence of any circumstantial triggering event. Further examinations also showed a double heterozygosis for G20210A prothrombin and factor V Leiden mutations. This case suggests that the increased thromboembolic risk, reported in Klinefelter's syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions, as shown by the relatively young age of the patient. More studies are needed to clearly understand the pathogenesis of venous thromboembolism in males affected by Klinefelter's syndrome.
Verhoeven W.m.a. - One of the best experts on this subject based on the ideXlab platform.
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Kallmann syndrome and schizophrenia: Is there a relationship?
2013Co-Authors: Verhoeven W.m.a., Egger J.i.m., Hovens J.h., N. De ,leeuw, Hoefsloot L.h.Abstract:Objective: In the early fourties of the past century, Kallmann and coworkers reported on a small number of patients, most of them with normal intelligence, in whom a combination of Eunuchoidism and anosmia was present. About two decades later, hypothalamic dysfunction was demonstrated to be etiologically involved. In the early nineties, the responsible gene, KAL1, was cloned and mapped to Xp22.3. Kallmann symdrome (KS) is genetically heterogeneous and most cases are sporadic. In about one-third of the affected patients the molecular basis has been identified. Apart from hypogonadotropic hypogonadism and hypo/anosmia, KS may be associated with an array of phenotypic abnormalities. Methods: A 28-years-old male patient with KS and paranoid schizophrenia was referred to the outpatient clinic for detailed diagnostic evaluation including genetic analysis. The literature was scrutinized for data about psychiatric symptoms in patients with KS. Results: Psychiatric examination disclosed negative psychotic symptoms only, following an acute paranoid schizophrenic episode 1 year before. He used 15 mg aripiprazole daily and testosterone gel 20 mg/gr. Hormonal panel showed extremely low levels of LH and FSH. Otolaryngeal examination disclosed complete anosmia and MRI scanning of the brain demonstrated complete absence of the olfactory bulbs. Neuropsychological assessment revealed subaverage intelligence distinctly disconcordant with premorbid functioning, markedly lowered speed of information processing, and impaired executive and social cognitive functions. Genome wide SNP array analysis and mutation analyses for the KAL1, FGFR1, PROK2, PROKR2, FGF8 and CHD7 genes, disclosed no genetic imbalance or any pathogenic mutation. Conclusion: This is the first report on the co-occurrence of KS and schizophrenia in an adult male patient in whom a complete genetic work-up was performed. Apart from an association between negative psychotic symptoms and odour identification deficits, no other information is available yet about the prevalence of psychiatric symptoms in KS. Further clinical studies are warranted to elucidate a possible increased risk for development of psychiatric, particularly psychotic, symptoms in patients with KS
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Kallmann syndrome and schizophrenia: Is there a relationship?
'Springer Science and Business Media LLC', 2013Co-Authors: Verhoeven W.m.a., Egger J.i.m., Hovens J.h., N. De ,leeuw, Hoefsloot L.h.Abstract:Contains fulltext : 122519.pdf (publisher's version ) (Closed access)Objective: In the early fourties of the past century, Kallmann and coworkers reported on a small number of patients, most of them with normal intelligence, in whom a combination of Eunuchoidism and anosmia was present. About two decades later, hypothalamic dysfunction was demonstrated to be etiologically involved. In the early nineties, the responsible gene, KAL1, was cloned and mapped to Xp22.3. Kallmann symdrome (KS) is genetically heterogeneous and most cases are sporadic. In about one-third of the affected patients the molecular basis has been identified. Apart from hypogonadotropic hypogonadism and hypo/anosmia, KS may be associated with an array of phenotypic abnormalities. Methods: A 28-years-old male patient with KS and paranoid schizophrenia was referred to the outpatient clinic for detailed diagnostic evaluation including genetic analysis. The literature was scrutinized for data about psychiatric symptoms in patients with KS. Results: Psychiatric examination disclosed negative psychotic symptoms only, following an acute paranoid schizophrenic episode 1 year before. He used 15 mg aripiprazole daily and testosterone gel 20 mg/gr. Hormonal panel showed extremely low levels of LH and FSH. Otolaryngeal examination disclosed complete anosmia and MRI scanning of the brain demonstrated complete absence of the olfactory bulbs. Neuropsychological assessment revealed subaverage intelligence distinctly disconcordant with premorbid functioning, markedly lowered speed of information processing, and impaired executive and social cognitive functions. Genome wide SNP array analysis and mutation analyses for the KAL1, FGFR1, PROK2, PROKR2, FGF8 and CHD7 genes, disclosed no genetic imbalance or any pathogenic mutation. Conclusion: This is the first report on the co-occurrence of KS and schizophrenia in an adult male patient in whom a complete genetic work-up was performed. Apart from an association between negative psychotic symptoms and odour identification deficits, no other information is available yet about the prevalence of psychiatric symptoms in KS. Further clinical studies are warranted to elucidate a possible increased risk for development of psychiatric, particularly psychotic, symptoms in patients with KS.2 p
Pierremarc Bouloux - One of the best experts on this subject based on the ideXlab platform.
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kallmann syndrome and other causes of hypothalamic hypogonadism and related development disorders
Handbook of Neuroendocrinology, 2012Co-Authors: Pierremarc BoulouxAbstract:Publisher Summary This chapter focuses primarily on a review of the genetic basis of Kallmann syndrome (KS) and other causes of Hypogonadotropic hypogonadism (IHH) and related development disorders. Reproduction requires high energy consumption, and functions optimally when nutrition and energy storage are readily available. GnRH plays a critical regulatory role in this process, particularly in anticipation and sustenance of puberty, pregnancy, and lactation. Like thyroid-stimulating hormone (TSH) and human chorionic gonadotropin (hCG), LH and FSH are large glycoproteins. FSH binds to specific receptors on Sertoli cells in the testis and granulosa cells in the ovary to stimulate folliculogenesis. FSH stimulates the activity of aromatase, an enzyme catalyzing the conversion of androgens to estrogens. Sex hormone deficiency occurring during this period leads to inadequate secondary sex maturation, including lack of virilization in males and breast development in females, with an associated syndrome of Eunuchoidism with typical long limbs and increased arm span due to late epiphyseal fusion of the appendicular skeleton.
