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About 750 results

ALLMedicine Kallmann Syndrome Center

Research & Reviews  375 results

The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with...
https://doi.org/10.1111/cen.14182
Clinical Endocrinology; Cho YK, Lee JM et. al.

Mar 14th, 2020 - Normosmic congenital hypogonadotropic hypogonadism (NHH) denotes Kallmann syndrome without anosmia or hyposmia. Over the past few years, the complex molecular basis of congenital hypogonadotrophic hypogonadism, including digenic or oligogenic path...

Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a P...
https://doi.org/10.1159/000506640
Neuroendocrinology Barraud S, Delemer B et. al.

Feb 19th, 2020 - Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb defects (CA/OBs) and congeni...

Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)
https://clinicaltrials.gov/ct2/show/NCT00392756

Feb 16th, 2020 - The specific aims of this study are: To identify men and women with hypogonadotropic hypogonadism and to define the spectrum of abnormalities in GnRH secretion in these patients. To study the physiology and control of the reproductive system in th...

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
https://clinicaltrials.gov/ct2/show/NCT00494169

Feb 16th, 2020 - Overview: Our work is divided into two main areas of investigation: the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hyp...

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mut...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988261
Reproductive Biology and Endocrinology : RB&E; Gach A, Pinkier I et. al.

Jan 30th, 2020 - Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date more than 30 gen...

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Clinicaltrials.gov  375 results

The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with...
https://doi.org/10.1111/cen.14182
Clinical Endocrinology; Cho YK, Lee JM et. al.

Mar 14th, 2020 - Normosmic congenital hypogonadotropic hypogonadism (NHH) denotes Kallmann syndrome without anosmia or hyposmia. Over the past few years, the complex molecular basis of congenital hypogonadotrophic hypogonadism, including digenic or oligogenic path...

Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a P...
https://doi.org/10.1159/000506640
Neuroendocrinology Barraud S, Delemer B et. al.

Feb 19th, 2020 - Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb defects (CA/OBs) and congeni...

Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)
https://clinicaltrials.gov/ct2/show/NCT00392756

Feb 16th, 2020 - The specific aims of this study are: To identify men and women with hypogonadotropic hypogonadism and to define the spectrum of abnormalities in GnRH secretion in these patients. To study the physiology and control of the reproductive system in th...

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
https://clinicaltrials.gov/ct2/show/NCT00494169

Feb 16th, 2020 - Overview: Our work is divided into two main areas of investigation: the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hyp...

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mut...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988261
Reproductive Biology and Endocrinology : RB&E; Gach A, Pinkier I et. al.

Jan 30th, 2020 - Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date more than 30 gen...

see more →