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Hypogonadotropic

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https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#1
Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, Anna Nordenstrom, Fred Sweep, Paul N Span, Antonius Eduard van Herwaarden, Julia Rohayem, Annette Richter-Unruh, Claire Bouvattier, Birgit Koehler, Barbara B Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten
CONTEXT: Current knowledge on gonadal function in Congenital Adrenal Hyperplasia (CAH) is mostly limited to single center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European "dsd-LIFE" cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#2
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29323692/delayed-puberty
#3
Alyssa M Dye, Grace B Nelson, Alicia Diaz-Thomas
Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations above the mean age and affects approximately 2% of adolescents. Causes of delayed puberty are broadly divided into two categories: hypergonadotropic hypogonadism and hypogonadotropic hypogonadism. One exception to this classification system is constitutional delay of growth and puberty, the most common cause of delayed puberty. For the general pediatrician, knowledge of the different causes and initial steps to evaluation is crucial when a patient with delayed puberty presents...
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29300908/sex-and-age-specific-impact-of-erk-loss-within-the-pituitary-gonadotrope-in-mice
#4
Jessica L Brown, Jianjun Xie, Miguel Brieno Enriquez, Jennifer Sones, Cynthia N Angulo, Ulrich Boehm, Andrew Miller, Chirine Toufaily, Ying Wang, Daniel J Bernard, Mark S Roberson
Extracellular signal-regulated kinase (ERK) signaling regulates hormone action in the reproductive axis, but specific mechanisms have yet to be completely elucidated. In the present study, ERK1 null and ERK2 floxed mice were combined with a gonadotrope-specific Cre (GRIC) driver. Female ERK double knockout (ERKdko) animals were hypogonadotropic, resulting in anovulation and complete infertility. Transcript levels of four gonadotrope-specific genes (GnRHR and the three gonadotropin subunits) were reduced in pituitaries at estrus in ERKdko females and the post-castration response to endogenous GnRH hyper-stimulation was blunted...
January 3, 2018: Endocrinology
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#5
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#6
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29248984/different-cerebellar-ataxia-phenotypes-associated-with-mutations-of-the-pnpla6-gene-in-brazilian-patients-with-recessive-ataxias
#7
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29241916/etiology-and-management-of-primary-amenorrhoea-a-study-of-102-cases-at-tertiary-centre
#8
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha
OBJECTIVE: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. MATERIALS AND METHODS: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29228280/new-intronic-fibroblast-growth-factor-receptor-1-fgfr1-mutation-leading-to-disrupted-splicing-and-kallmann-syndrome
#9
J Känsäkoski, K Vaaralahti, T Raivio
Congenital hypogonadotropic hypogonadism (CHH), which can present with a defective sense of smell (Kallmann syndrome, KS), is a clinically and genetically heterogeneous disorder. Over 31 genes have been associated with CHH, but most of the patients still lack a molecular genetic diagnosis. Some cases may be explained by mutations that disrupt the splicing of already established CHH genes but that are unrecognized either because they are located deep in introns or are not predicted to disrupt splicing. Here we identified a patient with a previously unreported Fibroblast Growth Factor Receptor 1 (FGFR1) mutation, c...
December 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29223677/the-hypothalamus-pituitary-gonad-axis-tales-of-mice-and-men
#10
REVIEW
Athina Kaprara, Ilpo T Huhtaniemi
Reproduction is controlled by the hypothalamic - pituitary - gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons play a central role in this axis through production of GnRH, which binds to a membrane receptor on pituitary gonadotrophs and stimulates the biosynthesis and secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Multiple factors affect GnRH neuron migration, GnRH gene expression, GnRH pulse generator, GnRH secretion, GnRH receptor expression, and gonadotropin synthesis and release...
December 6, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#11
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29202173/dcc-ntn1-complex-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism-impair-gnrh-neuron-development
#12
Justine Bouilly, Andrea Messina, Georgios Papadakis, Daniele Cassatella, Cheng Xu, James S Acierno, Brooke Tata, Gerasimos Sykiotis, Sara Santini, Yisrael Sidis, Eglantine Elowe-Gruau, Franziska Phan-Hug, Michael Hauschild, Pierre-Marc Bouloux, Richard Quinton, Mariarosaria Lang-Muritano, Lucie Favre, Laura Marino, Paolo Giacobini, Andrew A Dwyer, Nicolas J Niederländer, Nelly Pitteloud
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by absent puberty and infertility due to GnRH deficiency, and is often associated with anosmia (Kallmann syndrome, KS). The genetic etiology of CHH is heterogeneous, and more than 30 genes have been implicated in approximately 50% of patients with CHH. We hypothesized that genes encoding axon-guidance proteins containing fibronectin type-III (FN3) domains (similar to ANOS1, the first gene associated with KS), are mutated in CHH...
November 30, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29201072/the-role-of-kisspeptin-in-female-reproduction
#13
REVIEW
Sareh Zeydabadi Nejad, Fahimeh Ramezani Tehrani, Azita Zadeh-Vakili
Context: Kisspeptin (KISS1), a recently discovered neuropeptide that acts upstream of gonadotropin-releasing hormone (GnRH) neurons, is critical for maturation and function of the reproductive axis. This review aimed at providing comprehensive and up-to-date information on Kisspeptin and its role in female reproduction. Evidence Acquisition: A literature review was performed using PubMed for all English language articles published between 1999 and 2016. Results: The kisspeptin system (KISS1/G protein-coupled receptor-54,GPR54) has recently been addressed as an essential gatekeeper of puberty onset and gonadotropin secretion...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29182666/gnrh-receptor-gene-mutations-in-adolescents-and-young-adults-presenting-with-signs-of-partial-gonadotropin-deficiency
#14
Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio
Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and young adult females with clinical cues consistent with partial gonadotropin deficiency (stalled puberty, unexplained secondary amenorrhea), and describe phenotypic features and molecular genetic findings of monozygotic twin brothers with stalled puberty...
2017: PloS One
https://www.readbyqxmd.com/read/29176027/identification-of-a-novel-mutation-of-nr0b1-in-a-patient-with-x-linked-adrenal-hypoplasia-and-symptomatic-treatment
#15
Jing Yang, Yuncheng Lv, Ye Zhou, Xinhua Xiao
BACKGROUND: X-linked congenital adrenal hypoplasia (X-linked AHC) is characterized by acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty. Mutations in NR0B1, the gene located on Xp21.3 and encoding an orphan nuclear receptor named DAX1, are responsible for this disease. METHODS: The entire coding region of the NR0B1 gene of a 14-year-old X-linked AHC proband as well as his family members was sequenced...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29166371/effect-of-iron-overload-on-impaired-fertility-in-male-patients-with-transfusion-dependent-beta-thalassemia
#16
Mei-Jou Chen, StevenShinn-Forng Peng, Meng-Yao Lu, Yung-Li Yang, Shiann-Tarng Jou, Hsiu-Hao Chang, Shee-Uan Chen, Dong-Tsamn Lin, Kai-Hsin Lin
BACKGROUND: To investigate the fertility of male patients with transfusion-dependent beta-thalassemia, and use MRI as a novel method to assess the iron overload status of testis in such patients. METHODS: Twenty-one male patients with transfusion-dependent beta-thalassemia and 5 normal male controls enrolled in this study. Hormonal profiles, iron levels, MRI testicular dimension, MRI T2 values, parameters for sperm quality, sperm DNA fragmentation (SDF) of participants were measured...
November 22, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29165578/clues-for-polygenic-inheritance-of-pituitary-stalk-interruption-syndrome-by-exome-sequencing-in-20-patients
#17
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam
Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (< 5%), and a polygenic etiology has been suggested. GLI2 variants have been reported in a relatively high frequency in PSIS. Objective: To provide further evidence for a non-Mendelian, polygenic etiology of PSIS. Methods: Exome sequencing (trio approach) in 20 patients with isolated PSIS...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29160040/fgfr1-disruption-identified-by-whole-genome-sequencing-in-a-male-with-a-complex-chromosomal-rearrangement-and-hypogonadotropic-hypogonadism
#18
Kaori Yamoto, Shingo Okamoto, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
No abstract text is available yet for this article.
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29157487/contr%C3%A3-le-de-l%C3%A2-axe-gonadotrope-nouveaux-aspects-physiologiques-et-th%C3%A3-rapeutiques-control-of-the-gonadotrope-axis-new-physiologic-and-therapeutic-aspects
#19
L Maione, S Christin-Maître, P Chanson, J Young
The endocrine and exocrine functions of the gonads are controlled by the gonadotrope axis, whose master regulator is the hypothalamic decapeptide GnRH. The Kisspeptin/Neurokinin B (Kp/NkB) neuronendocrine system is the main physiologic regulator of GnRH neurons. The Kp/NkB system is currently considered the key mediator for the hypothalamic negative feedback exerted by sex steroids and prolactin, as well as by various metabolic signals. Intrinsic alterations or regulatory abnormalities of Kp/NkB system lead to various gonadotrope axis puberty and fertility dysfunctions...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#20
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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