Results 21 to 30 of about 30,173 (242)

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

Science Translational Medicine, 2022
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction.
Konstantina Chachlaki, A. Messina, Virginia Delli, Valérie Leysen, Csilla Maurnyi, Chieko Huber, Gaetan Ternier, K. Skrapits, Georgios E. Papadakis, S. Shruti, Maria Kapanidou, Xu Cheng, James Acierno, Jesse Rademaker, S. Rasika, R. Quinton, M. Niedziela, D. l'Allemand, D. Pignatelli, Mirjam Dirlewander, M. Lang-Muritano, P. Kempf, S. Catteau-jonard, N. Niederländer, P. Ciofi, M. Tena-Sempere, J. Garthwaite, L. Storme, P. Avan, E. Hrabovszky, A. Carleton, F. Santoni, P. Giacobini, N. Pitteloud, V. Prévot   +34 more
semanticscholar   +1 more source

The Genetic Backdrop of Hypogonadotropic Hypogonadism [PDF]

International Journal of Molecular Sciences, 2021
The pituitary is an organ of dual provenance: the anterior lobe is epithelial in origin, whereas the posterior lobe derives from the neural ectoderm. The pituitary gland is a pivotal element of the axis regulating reproductive function in mammals. It collects signals from the hypothalamus, and by secreting gonadotropins (FSH and LH) it stimulates the ...
Anna Szeliga, Michal Kunicki, Marzena Maciejewska-Jeske, Natalia Rzewuska, Anna Kostrzak, Blazej Meczekalski, Gregory Bala, Roman Smolarczyk, Eli Y. Adashi   +8 more
openaire   +2 more sources

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

medRxiv, 2021
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the ...
D. Whittaker, R. Oleari, L. Gregory, Polona Le Quesne Stabej, H. Williams, J. Torpiano, Nancy Formosa, M. Cachia, Daniel Field, A. Lettieri, L. Ocaka, Alyssa J J Paganoni, Sakina H. Rajabali, Kimberley L. H. Riegman, L. B. De Martini, T. Chaya, I. Robinson, Takahisa Furukawa, A. Cariboni, M. Basson, M. Dattani   +20 more
semanticscholar   +1 more source

Compromised Volumetric Bone Density and Microarchitecture in men with Congenital Hypogonadotropic Hypogonadism.

Journal of Clinical Endocrinology and Metabolism, 2021
CONTEXT Men with Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown.
A. Ostertag, Georgios E. Papadakis, C. Collet, S. Trabado, L. Maione, N. Pitteloud, J. Bouligand, M. de Vernejoul, M. Cohen-Solal, Jacques Young   +9 more
semanticscholar   +1 more source

Reversal of Idiopathic Hypogonadotropic Hypogonadism [PDF]

New England Journal of Medicine, 2007
Idiopathic hypogonadotropic hypogonadism, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a treatable form of male infertility caused by a congenital defect in the secretion or action of gonadotropin-releasing hormone (GnRH).
Taneli Raivio, John Falardeau, Andrew Dwyer, Richard Quinton, Frances J. Hayes, Virginia Hughes, Lindsay W. Cole, Simon H. S. Pearce, Hang Lee, Paul A. Boepple, William F. Crowley, Nelly Pitteloud   +11 more
openalex   +5 more sources

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

Human Genetics, 2020
Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to complex phenotypes due to gonadotropin-releasing hormone (GnRH) deficiency.
H. Butz, G. Nyirő, Petra Anna Kurucz, I. Likó, A. Patócs   +4 more
semanticscholar   +1 more source

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant

Clinical Case Reports, 2023
Key Clinical Message Empty sella syndrome is a complex syndrome with a diverse clinical presentation. The combination with functional hypogonadotropic hypogonadism is a real challenge for the clinician. Mutations in the CHD7 gene could be a possible, yet
Sava Petrov, Ekaterina Babadzhanova, Maria Orbetzova, Hristo Ivanov   +3 more
doaj   +1 more source

Phenotypic spectrum of idiopathic hypogonadotropic hypogonadism patients with CHD7 variants from a large Chinese cohort.

Journal of Clinical Endocrinology and Metabolism, 2020
PURPOSE Idiopathic hypogonadotropic hypogonadism (IHH) and CHARGE syndrome are two distinct developmental disorders sharing features of hypogonadism and/or impaired olfaction. CHD7 variants contribute to >60% CHARGE syndrome and ~10% IHH patients.
Jia-Da Li, Jiayu Wu, Yaguang Zhao, Xinying Wang, Fang Jiang, Qiao Hou, Dan-Na Chen, R. Zheng, Renhe Yu, W. Zhou, Meichao Men   +10 more
semanticscholar   +1 more source

Clinical Management of Congenital Hypogonadotropic Hypogonadism.

Endocrine reviews, 2019
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic
Jacques Young, Cheng Xu, Georgios E. Papadakis, J. Acierno, L. Maione, Johanna Hietamäki, T. Raivio, N. Pitteloud   +7 more
semanticscholar   +1 more source

Approach to the Patient With Hypogonadotropic Hypogonadism [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate hypothalamic GnRH secretion or failure of pituitary gonadotropin secretion.
Leticia Ferreira Gontijo Silveira, Ana Claudia Latronico   +1 more
openaire   +3 more sources