The Experts below are selected from a list of 207 Experts worldwide ranked by ideXlab platform

Margaret Zacharin - One of the best experts on this subject based on the ideXlab platform.

  • Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone.
    The Journal of clinical endocrinology and metabolism, 2015
    Co-Authors: Sze Choong Wong, David Scott, Angelina Lim, Smriti Tandon, Peter R. Ebeling, Margaret Zacharin
    Abstract:

    Context: There are currently no data evaluating volumetric bone mineral density (BMD), bone geometry, and body composition in adults with Klinefelter syndrome (KS) or Anorchia who have been treated with T from adolescence. Objective: To determine volumetric BMD, bone geometry using peripheral quantitative computed tomography (pQCT), and body composition using dual-energy x-ray absorptiometry (DXA) in men with classical KS or Anorchia treated with T from adolescence (age,

  • mild deficits of cortical bone in young adults with klinefelter syndrome or Anorchia treated with testosterone
    The Journal of Clinical Endocrinology and Metabolism, 2015
    Co-Authors: Sze Choong Wong, David Scott, Angelina Lim, Smriti Tandon, Peter R. Ebeling, Margaret Zacharin
    Abstract:

    Context: There are currently no data evaluating volumetric bone mineral density (BMD), bone geometry, and body composition in adults with Klinefelter syndrome (KS) or Anorchia who have been treated with T from adolescence. Objective: To determine volumetric BMD, bone geometry using peripheral quantitative computed tomography (pQCT), and body composition using dual-energy x-ray absorptiometry (DXA) in men with classical KS or Anorchia treated with T from adolescence (age, <16 y), compared with matched controls. Methods: Twenty subjects (12 KS, eight Anorchia) and 20 controls underwent a pQCT (66% tibia, 4% radius) and total body DXA. Results: Using adjusted regression models, there was reduced tibial cortical area (95% confidence interval [CI], −88.8 to −4.4 mm2; P = .03) and thickness (95% CI, −0.98 to −0.10 mm; P = .02) in subjects. All other bone parameters were similar between groups. Subjects had significantly higher fat mass (95% CI, 1.6 to 14.9 kg; P = .02), trunk:leg fat ratio (95% CI, 0.09 to 0.60...

  • Psychosexual and psychosocial functions of anorchid young adults.
    The Journal of clinical endocrinology and metabolism, 2009
    Co-Authors: Preamrudee Poomthavorn, Robyn Stargatt, Margaret Zacharin
    Abstract:

    Context: Prenatal exposure of the male fetus to androgen at wk 8–24 of gestation is essential for expression of male sex-typed behaviors in later life. Another peak of testosterone in male infants is demonstrated 1–5 months postnatally. The significance of this postnatal testosterone on male sex-typed behaviors remains to be elucidated. Bilateral congenital Anorchia represents an example of an individual lacking postnatal testosterone. If postnatal testosterone surge is critical for male sex-typed behaviors, differences should be seen in this group of patients in comparison with men with functioning testes. Objective: The objective of the study was to examine the psychosexual function of males with Anorchia. Design: This was a cross-sectional study. Setting: The study was conducted at the Royal Children’s Hospital, Melbourne, Australia, a referral center. Patients and Interventions: Fifteen young male adults with Anorchia and 15 healthy young males were enrolled in the study. All of them completed the sam...

Hans Peter Schwarz - One of the best experts on this subject based on the ideXlab platform.

Ken Mcelreavey - One of the best experts on this subject based on the ideXlab platform.

  • Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
    BMC pediatrics, 2016
    Co-Authors: Raja Brauner, Henri Lottmann, Flavia Picard-dieval, Sébastien Rouget, Joelle Bignon-topalovic, Anu Bashamboo, Ken Mcelreavey
    Abstract:

    Background Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with Anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or Anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism.

  • Clinical, Biological and Genetic Analysis of Anorchia in 26
    2016
    Co-Authors: Raja Brauner, Christine Trivin, Henri Lottmann, Anu Bashamboo, Mathieu Neve, Slimane Allali, Ken Mcelreavey
    Abstract:

    Background: Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. Methods: We evaluated the clinical and biological presentation, and family histories of 26 boys with Anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8. Results: No patient had any associated congenital anomaly. At birth, testes were palpable bilaterally or unilaterally in 13 cases and not in 7; one patient presented with bilateral testicular torsion immediately after birth. The basal plasma concentrations of anti-Müllerian hormone (AMH, n = 15), inhibin B (n = 7) and testosterone (n = 19) were very low or undetectable in all the patients evaluated, as were the increases in testosterone after human chorionic gonadotropin (hCG, n = 12). The basal plasma concentrations of follicle stimulating hormone (FSH) were increased in 20/25, as was that of luteinising hormone in 10/22 cases. Family members of 7/26 cases had histories of primary ovarian failure in the mother (n = 2), or sister 46,XX, together with fetal malformations of the only boy with microphallus and secondary foot edema (n = 1), secondary infertility in the father (n = 2), or cryptorchidism in first cousins (n = 2). The sequences of all the genes studied were normal. Conclusion: Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,X

  • Clinical, biological and genetic analysis of Anorchia in 26 boys.
    PloS one, 2011
    Co-Authors: Raja Brauner, Christine Trivin, Henri Lottmann, Anu Bashamboo, Mathieu Neve, Slimane Allali, Ken Mcelreavey
    Abstract:

    Background: Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. Methods: We evaluated the clinical and biological presentation, and family histories of 26 boys with Anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8. Results: No patient had any associated congenital anomaly. At birth, testes were palpable bilaterally or unilaterally in 13 cases and not in 7; one patient presented with bilateral testicular torsion immediately after birth. The basal plasma

  • An Analysis of the Genetic Factors Involved in Testicular Descent in a Cohort of 14 Male Patients with Anorchia
    The Journal of clinical endocrinology and metabolism, 2004
    Co-Authors: Giovanna Vinci, Marie-nöelle Anjot, Christine Trivin, Henri Lottmann, Raja Brauner, Ken Mcelreavey
    Abstract:

    Anorchia, or the "vanishing testis syndrome," is characterized by the absence of testis in a 46,XY individual with a male phenotype. The etiology is unknown; however, the familial occurrence of the disease and the association of this phenotype with 46,XY gonadal dysgenesis has led to the suggestion that genetic factors, which play a role in testicular determination, may be involved. Alternatively, exploratory laparoscopy has suggested that Anorchia may be caused by a prenatal testicular vascular accident associated with torsion during testicular descent. We screened a cohort of 14 boys with bilateral Anorchia for mutations in the Y chromosome-linked testis-determining gene SRY (sex-determining region, Y chromosome); in the gene necessary for correct testicular descent, INSL3; and in the gene of its receptor (LGR8). Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism. We confirmed previous reports that mutations in the SRY gene are not associated with Anorchia. Although a common polymorphism was identified in the INSL3 gene, no mutations were observed. The recurrent T222P mutation in the LGR8 gene was not found in any of the patients. These data show for the first time a lack of association between genetic factors necessary for correct testicular descent and Anorchia.

  • Clinical, biological and genetic analysis of Anorchia in 26 boys.
    Public Library of Science (PLoS), 1
    Co-Authors: Raja Brauner, Christine Trivin, Henri Lottmann, Anu Bashamboo, Mathieu Neve, Slimane Allali, Ken Mcelreavey
    Abstract:

    BACKGROUND: Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. METHODS: We evaluated the clinical and biological presentation, and family histories of 26 boys with Anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8. RESULTS: No patient had any associated congenital anomaly. At birth, testes were palpable bilaterally or unilaterally in 13 cases and not in 7; one patient presented with bilateral testicular torsion immediately after birth. The basal plasma concentrations of anti-Müllerian hormone (AMH, n = 15), inhibin B (n = 7) and testosterone (n = 19) were very low or undetectable in all the patients evaluated, as were the increases in testosterone after human chorionic gonadotropin (hCG, n = 12). The basal plasma concentrations of follicle stimulating hormone (FSH) were increased in 20/25, as was that of luteinising hormone in 10/22 cases. Family members of 7/26 cases had histories of primary ovarian failure in the mother (n = 2), or sister 46,XX, together with fetal malformations of the only boy with microphallus and secondary foot edema (n = 1), secondary infertility in the father (n = 2), or cryptorchidism in first cousins (n = 2). The sequences of all the genes studied were normal. CONCLUSION: Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,XY complement are sufficient for diagnosis of Anorchia. The hCG test is unnecessary. NR5A1 and other genes implicated in gonadal development and testicle descent were not mutated, which suggests that other genes involved in these developments contribute to the phenotypes

Eberhard Nieschlag - One of the best experts on this subject based on the ideXlab platform.

  • Disorders at the Testicular Level
    Andrology, 2010
    Co-Authors: Eberhard Nieschlag, H. M. Behre, Peter Wieacker, D. Meschede, Axel Kamischke, Sabine Kliesch
    Abstract:

    Bilateral congenital Anorchia occurs only in one of 20,000 males. Unilateral congenital Anorchia is about four times as frequent. Vascular and genetic disturbances, intrauterine infections, trauma or terato-genic factors are discussed as causes for the loss of one or both testes. A suspected abnormality in the sex-determining region of the Y chromosome, the SRY gene, could not be confirmed so far (Lobacarro et al. 1993). Nor could mutations in other genes responsible for testicular development and descent be clearly identified to date (Vinci et al. 2004; Philibert et al. 2007). Currently intrauterine torsion is favored as the most probable cause.

  • Pharmacology, pharmacokinetics and effects/side-effects of different androgen preparations
    The Aging Male, 1998
    Co-Authors: S. Von Eckardstein, Eberhard Nieschlag
    Abstract:

    At present, substitution therapy with testosterone is mainly used in classicalforms of male hypogonadism (e.g. hypothalamic/pituitary dysfunction, Klinefelter syndrome, congenital or acquired Anorchia). There is increasing discussion on the possible benefits of testosterone replacement therapy in male senescence. At the present state of research, substitution therapy in aged men can only be considered if there is evidence of testosterone deficiency as a sign of hypogonadism and after carefully weighing benefits and possible side-effects. This paper outlines the different testosterone preparations available or under investigation for substitution, and summarizes the current status of monitoring testosterone therapy.

Catherine Pienkowski - One of the best experts on this subject based on the ideXlab platform.

  • Bilateral Anorchia in infancy: occurence of micropenis and the effect of testosterone treatment.
    The Journal of Pediatrics, 2006
    Co-Authors: Delphine Zenaty, Frédérique Dijoud, Pierre Mouriquand, C. Bouvatier, Graziella Pinto, Claudine Lecointre, Marc Nicolino, Yves Morel, Sylvie Cabrol, Catherine Pienkowski
    Abstract:

    Objective To analyze the clinical and histological findings in boys with bilateral Anorchia and the response to testosterone treatment on penis length. Study design Patients were divided into two groups according to the absence (group A, n = 29) or the presence (group B, n = 26) of palpable intrascrotal or inguinal mass at first clinical examination. Results A micropenis was found in 46% of patients (n = 24) with a similar proportion in both groups. Testosterone treatment induced a mean penis length gain of 1.9 ± 1.3 SDS (standard deviation score). However, micropenis persisted in six patients. Histological examination (n = 18) confirmed the absence of any testicular structure with deferent ducts being present unilaterally or bilaterally in all but three patients. In these three patients, a hemorrhagic testis, probably as a result of a mechanical torsion, was found. Conclusions The presence of isolated micropenis in almost half of patients with bilateral Anorchia strongly suggests that the testicular damage frequently occurs during the second half of gestation after male sexual differentiation. In most cases, testosterone treatment stimulates the penile growth. Although the pathogenesis of bilateral Anorchia may be heterogeneous, our study suggests that gonads may have been functionally abnormal before they disappeared, and suggests that some patients have an intrinsic endocrine disorder.