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46, XX SRY-Positive Male Syndrome Presenting with Primary Hypogonadism in the Setting of Scleroderma

G Velasco, V Savarese, N Sandorfi, SA Jimenez… - Endocrine Practice, 2011 - AACE
Submitted for publication June 21, 2010 Accepted for publication August 18, 2010 *Fellows.
German Velasco is now affiliated with the Division of Endocrinology, Hawthorn Medical
Associates, North Dartmouth, Massachusetts. From the 1Division of Endocrinology, ...
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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

J Tornberg, GP Sykiotis, K Keefe… - Proceedings of the …, 2011 - National Acad Sciences
Neuronal development is the result of a multitude of neural migrations, which require extensive
cell-cell communication. These processes are modulated by extracellular matrix
components, such as heparan sulfate (HS) polysaccharides. HS is molecularly complex ...
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Male Hypogonadism and Germ Cell Loss Caused by a Mutation in Polo-Like Kinase 4

RM Harris, J Weiss… - Endocrinology, 2011 - Endocrine Soc
The genetic etiologies of male infertility remain largely unknown. To identify genes potentially
involved in spermatogenesis and male infertility, we performed genome-wide mutagenesis in
mice with N-ethyl-N-nitrosourea and identified a line with dominant hypogonadism and ...

… -releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

A Cariboni, K Davidson, S Rakic… - Human Molecular …, 2011 - Oxford Univ Press
Kallmann syndrome (KS) is a genetic disease characterized by hypogonadotropic hypogonadism
and impaired sense of smell. The genetic causes underlying this syndrome are still largely
unknown, but are thought to be due to a developmental defect in the migration of ...
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… testosterone and estradiol (E2) in adult men with unfused epiphyses due to unrecognized and untreated congenital hypogonadotropic hypogonadism: evidence for an …

V Rochira, A Balestrieri, L Zirilli… - Endocrine …, 2011 - endocrine-abstracts.org
Introduction: At puberty, the raise of serum estradiol (E 2 ) (after testosterone conversion) is needed
to fuse ephiphyses and to complete bone maturation in boys. Owing to severe hypogonadism
and very low circulating testosterone, adult men with congenital hypogonadotropic ...
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