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Hypogonadotropic hypogonadism

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https://www.readbyqxmd.com/read/29050862/jak-stat-signaling-pathway-gene-expression-is-reduced-following-nelf-knockdown-in-gnrh-neurons
#1
Eun Kyung Ko, Lynn P Chorich, Megan E Sullivan, Richard S Cameron, Lawrence C Layman
Hypothalamic gonadotropin releasing hormone (GnRH) is crucial for the proper function of the hypothalamic-pituitary-gonadal (HPG) axis, subsequent puberty, and reproduction. When GnRH neuron migration or GnRH regulation is impaired, hypogonadotropic hypogonadism results. Mutations in the gene for nasal embryonic luteinizing hormone-releasing factor (NELF) have been identified in GnRH-deficient humans. NELF is a predominantly nuclear protein that may participate in gene transcription, but the genes NELF regulates are unknown...
October 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#2
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022642/induction-of-puberty-with-human-chorionic-gonadotropin-hcg-followed-by-reversal-of-hypogonadotropic-hypogonadism-in-kallmann-syndrome
#3
Malgorzata Maria Pierzchlewska, Maciej Grzegorz Robaczyk, Ida Vogel
INTRODUCTION: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. CASE REPORT: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/29018155/clinical-characteristics-of-138-chinese-female-patients-with-idiopathic-hypogonadotropic-hypogonadism
#4
Rui-Yi Tang, Rong Chen, Miao Ma, Shou-Qing Lin, Yi-Wen Zhang, Ya-Ping Wang
OBJECTIVE: To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH). METHODS: We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management, and fertility outcomes of 138 women with IHH. All patients had been treated and followed-up at an academic medical centre during 1990-2016. RESULTS: Among the 138 patients, 82 patients (59.4%) were diagnosed with normosmic IHH and 56 patients (40...
October 10, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28972031/gordon-holmes-syndrome-finally-genotype-meets-phenotype
#5
Shahid Mehmood, Nigel Hoggard, Marios Hadjivassiliou
We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement.
September 28, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28970231/the-terminal-nerve-plays-a-prominent-role-in-gnrh-1-neuronal-migration-independent-from-proper-olfactory-and-vomeronasal-connections-to-the-olfactory-bulbs
#6
Ed Zandro M Taroc, Aparna Prasad, Jennifer M Lin, Paolo E Forni
Gonadotropin-releasing hormone-1 (GnRH-1) neurons (GnRH-1 ns) migrate from the developing olfactory pit into the hypothalamus during embryonic development. Migration of the GnRH-1 neurons is required for mammalian reproduction as these cells control release of gonadotropins from the anterior pituitary gland. Disturbances in GnRH-1 ns migration, GnRH-1 synthesis, secretion or signaling lead to varying degrees of hypogonadotropic hypogonadism (HH), which impairs pubertal onset and fertility. HH associated with congenital olfactory defects is clinically defined as Kallmann Syndrome (KS)...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28963812/spectral-signatures-of-mirror-movements-in-the-sensori-motor-connectivity-in-kallmann-syndrome
#7
Renzo Manara, Federica Di Nardo, Alessandro Salvalaggio, Antonio Agostino Sinisi, Guglielmo Bonanni, Vincenzo Palumbo, Elena Cantone, Arturo Brunetti, Francesco Di Salle, Arianna D'errico, Andrea Elefante, Fabrizio Esposito
Mirror movements (MM) might be observed in congenital and acquired neurodegenerative conditions but their anatomic-functional underpinnings are still largely elusive. This study investigated the spectral changes of resting-state functional connectivity in Kallmann Syndrome (hypogonadotropic hypogonadism with hypo/anosmia with or without congenital MM) searching for insights into the phenomenon of MM. Forty-four Kallmann syndrome patients (21 with MM) and 24 healthy control subjects underwent task (finger tapping) and resting-state functional MRI...
September 30, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28960429/the-effects-of-low-dose-hcg-combined-with-hmg-protocol-on-women-with-hypogonadotropic-hypogonadism-undergoing-ovarian-stimulation-for-in-vitro-fertilization
#8
Shutian Jiang, Yanping Kuang
OBJECTIVES: To investigate the effects of low-dose human chorionic gonadotropin (hCG) combined with human menopausal gonadotropin (HMG) protocol on cycle characteristics and outcomes of infertile women with hypogonadotropic hypogonadism (HH) undergoing ovarian stimulation for in vitro fertilization (IVF). DESIGN: A retrospective cohort study. SETTING: Tertiary-care academic medical centre. PATIENT(S): Forty-six infertile patients with HH and seventy-one infertile patients with tubal factor (TF) infertility undergoing IVF...
September 27, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28931393/successful-pregnancy-and-live-birth-from-a-hypogonadotropic-hypogonadism-woman-with-low-serum-estradiol-concentrations-despite-numerous-oocyte-maturations-a-case-report
#9
Kaori Matsumoto, Kazuhiko Imakawa, Chuyu Hayashi
BACKGROUND: The increase in serum estradiol (E2) concentrations during the follicular phase becomes the index of oocyte maturation in vivo. When ovarian stimulation is performed to hypogonadotropic hypogonadism (HH) patients with only follicle stimulating hormone (FSH), proper increase in serum E2 concentrations is not observed. Even if oocytes are obtained, which usually have low fertilization rate. In this report, we would like to present an unique case, in which under low E2 concentrations and without luteinizing hormone (LH) administration, numerous mature oocytes could be obtained and a healthy baby delivered...
September 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#10
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28924485/hypogonadotropic-hypogonadism-in-human-immunodeficiency-virus-infected-men-uncommonly-low-testosterone-levels
#11
Ana Coelho Gomes, José Maria Aragüés, Sílvia Guerra, Joana Fernandes, Mário Rui Mascarenhas
Hypogonadotropic hypogonadism (HH) is common and occurs prematurely in HIV-infected men. However, HH with very low testosterone has not been described. Three men with normal pubertal development and HIV1 diagnosis at the ages of 22, 34 and 35 years. All complained of decreased libido, anejaculation and erectile dysfunction thirteen years, six months and one year after HIV diagnosis, respectively. Two had depressive syndrome and two were treated with antiretroviral therapy. Laboratory tests revealed isolated HH in all...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#12
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28882981/characteristics-of-a-nationwide-cohort-of-patients-presenting-with-isolated-hypogonadotropic-hypogonadism-ihh
#13
Marco Bonomi, Valeria Vezzoli, Csilla Gabriella Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzoccaro, Gianni Russo, Mirella Moro, Letizia Maria Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvatore Cannavò, Andrea M Isidori, Angela I Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Francesca Pregnolato, Mohammad Maghnie, Mario Maggi, Luca Persani
OBJECTIVE: IHH is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altough information on their frequency are scanty, particularly according to the age of presentation. DESIGN: Observational cohort study carried out between January 2008-June 2016 within a national network of academic or general hospitals Methods: We performed a detailed phenotyping of 503 IHH patients with: 1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; 2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28882060/mri-assessment-of-pituitary-iron-accumulation-by-using-pituitary-r2-in-%C3%AE-thalassemia-patients
#14
Mustafa Bozdağ, Selen Bayraktaroğlu, Yeşim Aydınok, Mehmet Cem Çallı
Background Patients with thalassemia major (TM) require repeated blood transfusions, which leads to accumulation of iron in a wide variety of tissues. Accumulation of iron in the pituitary gland can lead to irreversible hypogonadotropic hypogonadism (HH) in this group of patients. Purpose To investigate the reliability of pituitary-R2 as a marker to estimate the extent of pituitary iron load by comparing the pituitary magnetic resonance imaging (MRI) findings with hepatic iron load and serum ferritin levels...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28858133/kallmann-syndrome-with-a-tyr113his-prokr2-mutation
#15
Jeong-Ha Ha, Sara Lee, Youngmoon Kim, Ji In Moon, Jongkwon Seo, Ja-Hyun Jang, Eun-Hae Cho, Jung Min Kim, Byoung Doo Rhee, Kyung Soo Ko, Soo Jin Yoo, Jong Chul Won
RATIONAL: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS: A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb. DIAGNOSIS: His karyotype was 46 XY. Sanger sequencing of the KAL1 gene revealed no mutations...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28835760/testicular-adrenal-rests-tumors-and-testicular-microlithiasis-in-a-brazilian-case-series-with-classic-congenital-adrenal-hyperplasia
#16
Laura Ohana Marques Coelho de Carvalho, Raymundo Miguel Garcia Lora, Claudia Renata Rezende Penna, Izabel Calland Ricarte Beserra
BACKGROUND: Testicular adrenal rest tumors are a benign condition characterized by the presence of remnants of adrenal tissue within the testes that can lead to infertility. Testicular microlithiasis are calculus deposits within the seminiferous tubules. Both are described in congenital adrenal hyperplasia. OBJECTIVES: Describe the frequency of testicular adrenal rest tumors and testicular microlithiasis in a Brazilian case series of patients with classic congenital adrenal hyperplasia and to also relate these changes to disease control and hypothalamic-pituitary-gonadal axis disorders...
January 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28833369/clinical-and-genetic-features-of-64-young-male-paediatric-patients-with-congenital-hypogonadotropic-hypogonadism-chh
#17
Yi Wang, Chunxiu Gong, Miao Qin, Ying Liu, Yuanyuan Tian
CONTEXT: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients showing hypothalamic and/or pituitary defects and testicular hypoplasia), so as to have a better understanding of CHH. DESIGN: The clinical and genetic features of CHH patients were analysed and the relationships between hypospadias, dual defects and genetics investigated...
August 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28807454/reconsidering-olfactory-bulb-magnetic-resonance-patterns-in-kallmann-syndrome
#18
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Michel Pugeat, Aude Brac de la Perriere, Véronique Lapras, Frédérique Nugues, Catherine Dode, Francois Cotton
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle...
August 11, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28791186/a-case-of-male-osteoporosis-a-37-year-old-man-with-multiple-vertebral-compression-fractures
#19
Suhaib Radi, Andrew C Karaplis
While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28778954/%C3%AE-klotho-sustains-postnatal-gnrh-biology-and-spins-the-thread-of-puberty
#20
Micheline Misrahi
Hypogonadotropic hypogonadism is a syndrome found to be isolated (IHH) or associated with anosmia, corresponding to the Kallmann syndrome (KS). It comprises a defect in gonadotropin-releasing hormone (GnRH) secretion and absent or delayed puberty. Genetic causes have been identified with a high genetic heterogeneity. Fibroblast growth factor receptor 1 (FGFR1), a tyrosine kinase receptor, was one of the first genes whose mutations were identified as causative in KS FGFR1 is responsible for the formation of the GnRH neuron system...
October 2017: EMBO Molecular Medicine
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