Results 41 to 50 of about 23,463 (198)

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Case Reports in Genetics, 2019
Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons.
Manickavasagam Senthilraja, Aaron Chapla, Felix K. Jebasingh, Dukhabhandhu Naik, Thomas V. Paul, Nihal Thomas   +5 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ, Seminara, SB, Habiby, RL, Bick, DP, Kotlar, TJ, Gu, WX, Hindmarsh, PC, Achermann, JC, Crowley, WF, Sabacan, LP, Sherins, RJ, Layman, LC, Jameson, JL   +12 more
core  

A rare case of Kallmann syndrome with bimanual synkinesis

Sri Lanka Journal of Medicine, 2021
Kallmann syndrome is a rare inherited disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia. Such cases are mostly diagnosed in adolescent period with complaints of failure to achieve puberty.
A. Deshmukh, R. Joshi
doaj   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Hypogonadotropic Hypogonadism in Men With Diabesity [PDF]

Diabetes Care, 2018
One-third of men with obesity or type 2 diabetes have subnormal free testosterone concentrations. The lower free testosterone concentrations are observed in obese men at all ages, including adolescents at completion of puberty. The gonadotropin concentrations in these males are inappropriately normal; thus, these patients have hypogonadotropic ...
Sandeep Dhindsa, Husam Ghanim, Manav Batra, Paresh Dandona   +3 more
openaire   +2 more sources

A case of Kallmann syndrome associated with a non-functional pituitary microadenoma

Endocrinology, Diabetes & Metabolism Case Reports, 2018
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented
Taieb Ach, Hela Marmouch, Dorra Elguiche, Asma Achour, Hajer Marzouk, Hanene Sayadi, Ines Khochtali, Mondher Golli   +7 more
doaj   +1 more source

Advent of NK3R Antagonists for the Treatment of Menopausal Hot Flushes: A Narrative Review

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT The menopause transition is marked by symptoms predominantly attributed to declining oestrogen levels. Approximately 80% of women experience associated symptoms, and 25% experience severe symptoms. The commonest are vasomotor symptoms (VMS), collectively referring to hot flushes and/or night sweats.
Aaran H. Patel, Aureliane Pierret, Edouard G. Mills, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2017
Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously
Turan, Ihsan, Hutchins, B. Ian, Hacihamdioglu, Bulent, Kotan, L. Damla, Gurbuz, Fatih, Ulubay, Ayca, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal   +9 more
openaire   +3 more sources

Unexpected difficult airway with hypogonadotropic hypogonadism

, 2014
Ferda Yaman,1 Bengi Arslan,2 Ercan Yuvanç,3 Ünase Büyükkoçak1 1Anesthesiology and Reanimation Department, 2Otorhinolaryngology Head and Neck Surgery Department, 3Urology Department, Faculty of Medicine, Kirikkale University ...
Arslan B., Yaman F, Arslan B, Büyükkoçak U., Yaman F., Yuvanç E., Yuvanç E, Büyükkoçak Ü   +7 more
core   +1 more source