References of "Valdes Socin, Hernan Gonzalo"
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See detailHypercalcémie paranéoplasique et hypercalcémie associée à la Néoplasie Multiple de type I (NEM1): traitement par Cinacalcet
VALDES SOCIN, Hernan Gonzalo ULg; POLUS, Marc ULg

Conference (2015, October 17)

Paraneoplastic hypercalcemia and hypercalcemia associated with neoplastic syndromes are particularly resistant to conventional hypocalcemic treatments. We present and discuss two case reports in which ... [more ▼]

Paraneoplastic hypercalcemia and hypercalcemia associated with neoplastic syndromes are particularly resistant to conventional hypocalcemic treatments. We present and discuss two case reports in which Cinacalcet was used to control hypercalcemia. Paraneoplastic hypercalcemia is present in the first case report, in association with a metastasic neuroendocrine pancreas. In the second case report ,cinacalcet is used to control hypecalcemia in a patient with multiple endocrine neoplasia and hyperparathyroidism not controlled by neck surgery. Cinacalcet is an oral agonist of the Calcium Sensing Receptor. The hypocalcemic effects of Cinacalcet have not been documented so far in hypercalcemia-paraneo plastic linked to cancer of the pancreas (Valdés-Socin & al. Rev Med Switzerland 2009). On the other hand, its use seems promising in the MEN1-associated hyperparathyroidism. (Giusti & al. Endocrine 2015). [less ▲]

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See detailEl sindrome de Pasqualini o sindrome del eunuco fertil
VALDES SOCIN, Hernan Gonzalo ULg

Scientific conference (2014, December 11)

The LHB subunit gene is located at chromosome 19q13.32. Five mutations have been published up to now. The syndrome of preserved spermatogenesis with androgenic failure (now known to be due to LH ... [more ▼]

The LHB subunit gene is located at chromosome 19q13.32. Five mutations have been published up to now. The syndrome of preserved spermatogenesis with androgenic failure (now known to be due to LH deficiency) was described for the first time by Pasqualini and Bur in 1950. The term “fertile eunuch” was then coined (but somehow incorrectly) to describe these men that are usually infertile. In affected men, sexual differentiation was normal, but the absence of or significantly reduced LH secretion restrained the induction of puberty and altered Leydig cells. These males have impaired spermatogenesis, ranging froma zoospermia to oligospermia,which has been associated to the lack of LH stimulation and low intratesticular testosterone action. In 2004, we described a man with a homozygous missense mutation (G36D) in the LHB subunit gene that abrogated subunit dimerization and rendered LH biologically and immunologically inactive (31). Treatment with human chorionic gonadotropin (hCG) induced near normalization of testicular structure. The patient and his wife conceived a child by intracytoplasmic sperm injection from ejaculated sperm. The male heterozygous child had normal LH, FSH, and testosterone levels, at the age of 4weeks. In women, LHB mutations lead to a normal pubertal development but they can have primary amenorrhea and micropolycystic ovaries [less ▲]

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See detailHypogonadisme génétique masculin: diagnostic et prise en charge
VALDES SOCIN, Hernan Gonzalo ULg

Scientific conference (2014, December 05)

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 ... [more ▼]

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. [less ▲]

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See detailEl sindrome de Cushing
VALDES SOCIN, Hernan Gonzalo ULg

Scientific conference (2014, November 13)

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See detaille syndrome de Pasqualini (Fertile eunuch syndrome)
VALDES SOCIN, Hernan Gonzalo ULg

Scientific conference (2014, November 12)

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 ... [more ▼]

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. [less ▲]

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See detailLe cancer thyroïdien papillaire familial (FNMTC): études cliniques et génétiques chez 8 familles
VALDES SOCIN, Hernan Gonzalo ULg; Daly, Adrian ULg; Burlacu, C et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailExpression et localisation immunohistochimique de KISS1 et de son récepteur GPR54 : étude du tissu thyroïdien non tumoral et d'une série de patients opérés d'un cancer thyroïdien papillaire
VALDES SOCIN, Hernan Gonzalo ULg; Munaut, Carine ULg; SCAGNOL, Irène ULg et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailDysthyroïdies iatrogènes
Maiga, Ibrahima ULg; VALDES SOCIN, Hernan Gonzalo ULg; DELWAIDE, Jean ULg et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailMacroprolactinome pédiatrique sporadique associé à une mutation germinale AIP R304Q: Rémission quatre ans après l'interruption d'un traitement par Cabergoline.
VALDES SOCIN, Hernan Gonzalo ULg; Potorac, Iulia ULg; Janin, N et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Françaose d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailLeucémie myéloblastique aiguë : sécrétion paranéoplasique de GH et de PRL ?
VALDES SOCIN, Hernan Gonzalo ULg; Potorac, Iulia ULg; DE PASQUAL, Aurelie ULg et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Françaose d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailHypervitaminémie B12 : un piège diagnostique pour le biologiste et pour le clinicien ?
LUYCKX, Françoise ULg; Texeira, J; VALDES SOCIN, Hernan Gonzalo ULg et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailL’HYPOGONADISME HYPOGONADOTROPE NORMOSMIQUE ISOLE (HHnI)
VALDES SOCIN, Hernan Gonzalo ULg

Master of advanced studies dissertation (2014)

L'hypogonadisme hypogonaodotrope isolé est une maladie génétique qui peut se produire avec un sens normal de l’olfaction ou en association avec une anosmie/hyposmie (syndrome de Kallmann.) L’hypogonadisme ... [more ▼]

L'hypogonadisme hypogonaodotrope isolé est une maladie génétique qui peut se produire avec un sens normal de l’olfaction ou en association avec une anosmie/hyposmie (syndrome de Kallmann.) L’hypogonadisme hypogonadotrophique peut aussi se décliner associé à d’autres traits distinctifs syndromiques, tel que le Prader Willy, que nous ne traiterons pas ici. Dans ce mémoire, nous nous concentrerons sur l’hypogonadisme hypogonadique central normosmique, qui d’un point de vue épidémiologique est plus fréquent chez l’homme. [less ▲]

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See detailLe Syndrome auto-immun thyrogastrique
VALDES SOCIN, Hernan Gonzalo ULg

Conference given outside the academic context (2014)

The thyrogastric autoimmune syndrome (TAS) was described in patients in whom the serum cross-reacted both with gastric parietal cells antigens and thyroid antigens. We describe several cases illustrating ... [more ▼]

The thyrogastric autoimmune syndrome (TAS) was described in patients in whom the serum cross-reacted both with gastric parietal cells antigens and thyroid antigens. We describe several cases illustrating the spectrum of pathogical features of TAS. Autoimmune thyroiditis include Hahimoto’s Thyroiditis and Graves Disease. Autoimmune gastritis may present at first only micronutrients deficiency (B12, iron) whereas Biermer anemia with gastric atrophy and gastrin cell hyperplasia is the consequence of long standing disease. One possible presentation of gastric autoimmunity is the association with Helicobacter pylori infection. Gastric autoimmunity is potentially reversible if Helicobacter is erradicated. When gastric autoimmunity is irreversible, this condition leads to gastric severe atrophy, hypochlorhydria and hypergastrinemia. Hypergastrinemia stimulates enterochromaffin cell hyperplasia, progressing eventually to neuroendocrine tumors. The thyrogastric syndrome should be considered a risk factor to develop a neuuroendocrine tumor. We propose a diagnostic approach to improve the characterization of TAS. We review the literature on the subject and discuss some interesting animal models of infectious gastric autoimmunity [less ▲]

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See detailBASES NEUROENDOCRINES DU STRESS: du combat ou la fuite, au Syndrome de Cushing.
VALDES SOCIN, Hernan Gonzalo ULg

Scientific conference (2014, March 12)

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, AS; Potorac, I; DEBRAY, François-Guillaume ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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Peer Reviewed
See detailCowden Syndrome: a novel PTEN mutation description and how to recognize a not so rare hereditary cancer syndrome
Delannoy, Pauline; DEBRAY, François-Guillaume ULg; BECKERS, Albert ULg et al

in Acta Clinica Belgica (2014), 69(suppl 3), 16

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See detailReproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
VALDES SOCIN, Hernan Gonzalo ULg; Rubio Almanza, Matilde; Tome Fernandez-Ladreda, Mariana et al

in Frontiers in endocrinology (2014), 5

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the ... [more ▼]

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic 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 number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, 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, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology. [less ▲]

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