Results 61 to 70 of about 41,302 (312)

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Advances in Laboratory Medicine, 2023
Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.
Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María   +8 more
doaj   +1 more source

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future [PDF]

, 2015
The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG) axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH).
Achermann, Andersson, Au, Avbelj Stefanija, Ballabio, Boehm, Bulow, Canto, Chan, Costa-Barbosa, De Morsier, de Roux, de Roux, Ding, Dode, Falardeau, Farooqi, Fechner, Forni, Franco, Hanchate, Hu, Jackson, Kallmann, Kaplan, Kim, Kuiri-Hanninen, Laitinen, Leroy, Maestre de San Juan, Maione, Matsuo, Mayer, Meczekalski, Miraoui, Navarro, Pingault, Pinilla, Pinto, Pitteloud, Pitteloud, Quennell, Quinton, Schwanzel-Fukuda, Schwarting, Segal, Sidhoum, Sykiotis, Topaloglu, Tornberg, Vermeulen, Watanabe, Wierman, Xu, Zhao   +54 more
core   +2 more sources

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

Andrology, EarlyView.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret, Aaran H. Patel, Elisabeth Daniels, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

Narcolepsy, depression, and severe flushing in an obese man

Clinical Case Reports, 2020
Hypogonadism as a cause of depression, daytime sleepiness, and flushing is often missed in young males. Our case report highlights the importance of screening for hypogonadotropic hypogonadism and its treatment in symptomatic men with severe obesity ...
Fatimo Biobaku, Adel Hanna, George Matthews, Sandeep Dhindsa, Paresh Dandona   +4 more
doaj   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

A rare presentation of the Klinefelter's syndrome [PDF]

, 2003
A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank, B. Rothschild, B.M. Maggs, F. Shahrokhi, G. Calinescu, H. Okamura, K. Kuratowski, L.R. Ford, M. Charikar, M.V. Lomonosov, N. Garg, N. Robertson, O. Günlük, P. Elias, P. Klein, P. Seymour, P.D. Seymour, P.N. Klein, S. Rao, S.N. Bhatt, T. Hu, T. Leighton, Y. Aumann, É. Tardos   +23 more
core   +2 more sources

Update on male reproductive endocrinology. [PDF]

, 2018
Practitioners of male reproductive and sexual medicine must have an intimate understanding of the physiology of male reproductive endocrinology, as such a knowledge is the cornerstone on which hormonal treatments are based.
Clavijo, Raul, Hsiao, Wayland
core   +1 more source

Anabolic steroids purchased on the Internet as a cause of prolonged hypogonadotropic hypogonadism [PDF]

, 2010
OBJECTIVE: To report a case of hypogonadotropic hypogonadism due to the chronic abuse of anabolic steroids purchased over the Internet. DESIGN: Case report. SETTING: Endocrinology unit of the University of Brescia.
Agosti B, Assanelli D, Bonetti A, Cappelli C, Castellano M, Delbarba A, Pirola I, Scalvini T   +7 more
core   +1 more source

Pharmacogenetics of follicle‐stimulating hormone action in the male

Andrology, EarlyView.
Abstract Male factor infertility (MFI) is involved in half of the cases of couple infertility. The follicle‐stimulating hormone (FSH) therapy is considered efficient to improve semen parameters and pregnancy rate in patients with idiopathic MFI, following the lesson learned from hypogonadotropic hypogonadism.
Andrea Graziani, Giuseppe Grande, Raffele Scafa, Riccardo Selice, Andrea Garolla, Maria Santa Rocca, Cinzia Vinanzi, Alberto Ferlin   +7 more
wiley   +1 more source

A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism

Case Reports in Endocrinology, 2015
Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for ...
Rifki Ucler, Erdal Kara, Murat Atmaca, Sehmus Olmez, Murat Alay, Yaren Dirik, Aydin Bora   +6 more
doaj   +1 more source