Results 31 to 40 of about 41,302 (312)

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers [PDF]

, 1992
Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as
Aizawa, Baird, Benecke, Britton, Capaday, Claus, Cohen, Conrad, Danek, Farmer, Forget, Freiman, Fries, Galaburda, Kallmann, Klingm�ller, Konagaya, Lander, Lieblich, Matthews, Meitinger, Nass, Nathan, Regli, Salmaso, Schott, Schwankhaus, Schwanzel-Fukuda, Schwanzel-Fukuda, Shibasaki, Skene, Weidenreich, White, Witt   +33 more
core   +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

Improvement in semen parameters by switching steroids in a male congenital adrenal hyperplasia patient with severe oligozoospermia

Urology Case Reports, 2023
Congenital adrenal hyperplasia (CAH) causes hypogonadotropic hypogonadism due to the excessive production of adrenal androgens, which results in hypospermatogenesis in some male patients.
Atsushi Onishi, Keisuke Okada, Katsuya Sato, Yasuhiro Kaku, Koji Chiba, Masato Fujisawa   +5 more
doaj   +1 more source

Hypogonadotropic hypogonadism presenting with arhinia: a case report [PDF]

, 2013
INTRODUCTION: Arhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency.
Jeanie B Tryggestad, Shibo Li, Steven D Chernausek   +2 more
core   +1 more source

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. [PDF]

, 2008
Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism.
Asci R, Bellastella A, Bellastella G, De Bellis A, ELEFANTE, ANDREA, Esposito D, IOLASCON, ACHILLE, Maione L, Sinisi AA   +8 more
core   +1 more source

The unsolved case of “bone-impairing analgesics”. The endocrine effects of opioids on bone metabolism [PDF]

, 2015
The current literature describes the possible risks for bone fracture in chronic analgesics users. There are three main hypotheses that could explain the increased risk of fracture associated with central analgesics, such as opioids: 1) the increased ...
COLUZZI, FLAMINIA, MATTIA, Consalvo, Pergolizzi, Joseph, Raffa, Robert B   +3 more
core   +3 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

An open-label clinical trial to investigate the efficacy and safety of corifollitropin alfa combined with hCG in adult men with hypogonadotropic hypogonadism [PDF]

, 2017
Subject disposition.
Anjela Tzontcheva, Barbara J. Stegmann, Christine McCrary Sisk, Eberhard Nieschlag, Hermann M. Behre, Pierre-Marc G. Bouloux, R. Ravi Shankar, Yanfen Guan   +7 more
core   +4 more sources

Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort. [PDF]

, 2015
The reversal of congenital hypogonadotropic hypogonadism (CHH) is a relatively recent phenomenon that has gained increasing attention over the past 10 years.
Dwyer, A., Raivio, T.
core   +3 more sources

Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys [PDF]

, 2014
In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains
Ambao, Veronica Ana, Ballerini, Maria Gabriela, Bedecarras, Patricia Gladys, Bergadá, Ignacio, Braslavsky, Debora Giselle, Campo, Stella Maris, Gottlieb, Silvia Elisa, Grinspon, Romina, Loreti, Rosana Nazareth, Rey, Rodolfo Alberto, Ropelato, Maria Gabriela, Schteingart, Helena Fedora, Valeri, Clara   +12 more
core   +2 more sources