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1. Full Text Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
by Gerasimos P. Sykiotis and Lacey Plummer and Virginia A. Hughes and Margaret Au and Sadia Durrani and Sadhana Nayak-Young and Andrew A. Dwyer and Richard Quinton and Janet E. Hall and James F. Gusella and Stephanie B. Seminara and William F. Crowley and Nelly Pitteloud and Patricia K. Donahoe
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | CONTRIBUTE | idiopathic hypogonadotropic hypogonadism | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | digenic | PROKINETICIN-2 | GENE | LINKED KALLMANN-SYNDROME | MUTATIONS | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | DELETIONS | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Biological Sciences
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2. Full Text GnRH receptor mutations in isolated gonadotropic deficiency
by Chevrier, L and Guimiot, F and de Roux, N
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2011, Volume 346, Issue 1, pp. 21 - 28
GnRH and its receptor GnRHR are key regulators of the hypothalamo–pituitary axis. They modulate the secretion of LH and FSH gonadotropins and therefore, the... 
Hypothalamo–pituitary axis | GnRH receptor mutations | Variable phenotype | Intracellular trafficking | Hypothalamo-pituitary axis | HOMOZYGOUS MUTATION | HORMONE RECEPTOR | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | KALLMANNS-SYNDROME | LUTEINIZING-HORMONE | CELL BIOLOGY | PROTEIN-COUPLED RECEPTOR | ENDOCRINOLOGY & METABOLISM | PLASMA-MEMBRANE EXPRESSION | ENDOPLASMIC-RETICULUM | MOLECULAR-BASIS | RETINITIS-PIGMENTOSA | Hypogonadism - genetics | Phenotype | Receptors, LHRH - genetics | Animals | Gonadotropin-Releasing Hormone - genetics | Humans | Mutation | Developmental Biology | Gonadotropin-Releasing Hormone - deficiency | Follicle-stimulating hormone | Inositol | Genetic disorders | Physiological aspects | Luteinizing hormone | Genetic aspects | Glycoproteins | Hormones | Membrane proteins | Correlation
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3. Full Text Visceral fat accumulation: is it caused by estrogen deficiency?
by Warren, Michelle P
Menopause, ISSN 1072-3714, 10/2015, Volume 22, Issue 10, pp. 1030 - 1031
TRIAL | REPLACEMENT | ENERGY-EXPENDITURE | GNRH AGONIST THERAPY | DOUBLE-BLIND | POSTMENOPAUSAL HORMONE-THERAPY | BODY-COMPOSITION | WEIGHT | WOMENS HEALTH | EXERCISE | OBSTETRICS & GYNECOLOGY | Bone Density - drug effects | Exercise | Body Composition - drug effects | Estrogens, Conjugated (USP) - administration & dosage | Humans | Female | Gonadotropin-Releasing Hormone - agonists
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4. Full Text Genetic counseling for isolated GnRH deficiency
by Au, Margaret G and Crowley, William F and Buck, Cassandra L
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2011, Volume 346, Issue 1, pp. 102 - 109
► The genetics of isolated GnRH deficiency (IGD) is growing increasingly complex. ► Variants in over 10 genes are associated with IGD and variable... 
GnRH deficiency | Kallmann syndrome | Genetic counseling | GONADOTROPIN-RELEASING-HORMONE | FACTOR RECEPTOR 1 | GPR54 | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | PHENOTYPES | OF-FUNCTION MUTATIONS | CELL BIOLOGY | PROKINETICIN-2 | ENDOCRINOLOGY & METABOLISM | KALLMANN-SYNDROME | DELETIONS | NEUROKININ B | Phenotype | Animals | Genetic Testing | Risk Assessment | Pedigree | Humans | Genetic Counseling | Gonadotropin-Releasing Hormone - deficiency | Neurohormones | Pituitary hormones | Stress (Psychology) | Medical genetics | Cellular | Algorithms | Risk assessment | Translating | Genetics | Reproductive disorders | Anxiety | Endocrinology | genetic counseling
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5. Full Text X-linked GnRH deficiency: Role of KAL-1 mutations in GnRH deficiency
by Hu, Youli and Bouloux, Pierre-Marc
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2011, Volume 346, Issue 1, pp. 13 - 20
The gene for X-linked Kallmann’s syndrome ( , encoding anosmin-1) was cloned in 1991. Over a decade elapsed before autosomal forms of KS and most of other... 
GnRH deficiency | Kallmann syndrome | Anosmin-1 | FGF signalling | GONADOTROPIN-RELEASING-HORMONE | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | KALLMANN-SYNDROME GENE | CELL-ADHESION | CELL BIOLOGY | NEURONAL DEVELOPMENT | GROWTH | ENDOCRINOLOGY & METABOLISM | HEPARAN-SULFATE | EXTRACELLULAR-MATRIX | INSIGHTS | Gonadotropin-Releasing Hormone - genetics | Extracellular Matrix Proteins - genetics | Humans | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Animals | Genes, X-Linked | Gonadotropin-Releasing Hormone - metabolism | Neurons - physiology | Neurons - metabolism | Mutation | Developmental Biology | Gonadotropin-Releasing Hormone - deficiency | Extracellular Matrix Proteins - metabolism | Neurohormones | Genetic aspects | Glycosaminoglycans | Pituitary hormones | Cerebellum | Proteins | Mutations | Bulbs | Cellular | Genes | Genetics | Sulfates
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6. Full Text Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications
by Young, Jacques and George, Jyothis T and Tello, Javier A and Francou, Bruno and Bouligand, Jerome and Guiochon-Mantel, Anne and Brailly-Tabard, Sylvie and Anderson, Richard A and Millar, Robert P
Neuroendocrinology, ISSN 0028-3835, 03/2013, Volume 97, Issue 2, pp. 193 - 202
Pulsatile gonadotropin-releasing hormone (GnRH) is crucial to normal reproductive function and abnormalities in pulse frequency give rise to reproductive... 
Rapid Communication | Hypogonadotropic hypogonadism | Kisspeptin | Neurokinin B signaling deficiency | Pulsatile LH secretion | GnRH pulse generation | Deficient NKB signaling | Kisspeptin-10 infusion | GNRH PULSE-GENERATOR | MONKEY MACACA-MULATTA | HUMAN METASTIN-45-54 | GONADOTROPIN-RELEASING-HORMONE | RHESUS-MONKEY | RAT HYPOTHALAMUS | FAMILIAL HYPOGONADOTROPIC HYPOGONADISM | ARCUATE NUCLEUS | NEUROSCIENCES | MORPHOLOGIC EVIDENCE | ENDOCRINOLOGY & METABOLISM | MEDIAN-EMINENCE | Estradiol - blood | Receptors, Neurokinin-3 - deficiency | Disorders of Sex Development - blood | Luteinizing Hormone - blood | Humans | Kisspeptins - administration & dosage | Male | Neurokinin B - genetics | Signal Transduction - genetics | Disorders of Sex Development - genetics | Mutation - physiology | Pulsatile Flow - drug effects | Signal Transduction - drug effects | Receptors, Neurokinin-3 - metabolism | Neurokinin B - deficiency | Adult | Female | Inhibins - blood | Testosterone - blood | Disorders of Sex Development - physiopathology | Disorders of Sex Development - therapy | Luteinizing Hormone - secretion | Receptors, Neurokinin-3 - genetics
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7. Full Text GnRH agonist treatment of luteal phase deficiency in HCG-triggered IVF cycles: a matched case-control study
by Mendoza-Tesarik, Raquel and Mendoza, Nicolas and López, Cristina Conde and Tesarik, Jan
Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, Issue 2, pp. 225 - 230
This study aimed to identify women with IVF failure associated with low serum progesterone levels after embryo transfer in HCG-triggered cycles and to evaluate... 
Progesterone secretion | Luteal phase deficiency | GnRH agonist | Corpus luteum function | DEFECT | OBSTETRICS & GYNECOLOGY | SUPPORT | REPRODUCTIVE BIOLOGY | IMPLANTATION | PREIMPLANTATION DEVELOPMENT | PRONUCLEAR | OVARIAN STIMULATION | HORMONE AGONIST | CORPUS-LUTEUM
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8. Full Text The kisspeptin signaling pathway and its role in human isolated GnRH deficiency
by Wahab, Fazal and Quinton, Richard and Seminara, Stephanie B
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2011, Volume 346, Issue 1, pp. 29 - 36
► Kisspeptin is a powerful stimulus of GnRH-induced LH secretion. ► Loss-of-function: mutations in are a rare but prismatic cause of GnRH deficiency. ►... 
Kisspeptin | Hypogonadotropic hypogonadism | GnRH deficiency | HYPOTHALAMIC KISS-1 SYSTEM | HAMSTERS PHODOPUS-SUNGORUS | REPRODUCTIVE-SYSTEM | MESSENGER-RNA EXPRESSION | GONADOTROPIN-RELEASING-HORMONE | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | CELL BIOLOGY | PROTEIN-COUPLED RECEPTOR | ENDOCRINOLOGY & METABOLISM | KALLMANN-SYNDROME | MUTATIONS | SIBERIAN HAMSTERS | Genetic Association Studies | Signal Transduction | Gonadotropin-Releasing Hormone - genetics | Humans | Puberty - physiology | Kisspeptins - metabolism | Puberty - genetics | Kisspeptins - genetics | Animals | Neurosecretory Systems - physiology | Gonadotropin-Releasing Hormone - metabolism | Neurosecretory Systems - metabolism | Gonadotropin-Releasing Hormone - deficiency | Luteinizing hormone | Neurohormones | Follicle-stimulating hormone | Glycoproteins | Proteins | Mutations | Cellular | Pathways | Cascades | Men | Mice | Secretions
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9. Full Text Genetic insights into human isolated gonadotropin deficiency
by Trarbach, Ericka Barbosa and Silveira, Leticia Gontijo and Latronico, Ana Claudia
Pituitary, ISSN 1386-341X, 12/2007, Volume 10, Issue 4, pp. 381 - 391
The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic-pituitary-gonadal... 
Hypogonadotropin hypogonadism | Medicine & Public Health | Gonadotropin deficiency | Gonadotropin-releasing hormone | Neurosurgery | Diabetes | Kallman syndrome | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | hypogonadotropin hypogonadism | BETA-SUBUNIT GENE | LUTEINIZING-HORMONE | gonadotropin-releasing hormone | OLFACTORY-BULB | gonadotropin deficiency | PROTEIN-COUPLED RECEPTOR | ENDOCRINOLOGY & METABOLISM | FOLLICLE-STIMULATING-HORMONE | LINKED KALLMANN-SYNDROME | HEPARAN-SULFATE | GNRH RECEPTOR | GROWTH-FACTOR RECEPTOR-1 | Hypogonadism - genetics | Kallmann Syndrome - physiopathology | Kallmann Syndrome - genetics | Humans | Hypogonadism - physiopathology | Gonadotropins - deficiency | Gonadotropins - genetics | Hormones
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10. Full Text Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network
by Balasubramanian, Ravikumar and Crowley, William F
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2011, Volume 346, Issue 1, pp. 4 - 12
► Normal development of the hypothalamo-pituitary-gonadal axis in humans. ► Human isolated GnRH deficiency (IGD) : reproductive and non-reproductive... 
Hypogonadotropic hypogonadism | Puberty | GnRH neuronal ontogeny | GnRH | GnRH deficiency | Kallmann syndrome | MONKEY MACACA-MULATTA | HUMAN METASTIN-45-54 | GONADOTROPIN-RELEASING-HORMONE | PROKINETICIN 2 | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | PULSATILE LUTEINIZING-HORMONE | CELL BIOLOGY | ENDOCRINOLOGY & METABOLISM | FOLLICLE-STIMULATING-HORMONE | LINKED KALLMANN-SYNDROME | MUTATIONS | FERTILE EUNUCH SYNDROME | Gonadotropin-Releasing Hormone - genetics | Humans | Gonadotropin-Releasing Hormone - metabolism | Neurons - physiology | Neurons - metabolism | Hypothalamo-Hypophyseal System - physiology | Developmental Biology | Gonadotropin-Releasing Hormone - deficiency | Systems Biology | Hypothalamo-Hypophyseal System - metabolism | Neurohormones | Neurons | Pituitary hormones | puberty | hypogonadotropic hypogonadism
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11. Gonadotropin-releasing hormone (GnRH) deficiency under treatment: psychological and sexual functioning impacts
by Georgopoulos, Neoklis A and Armeni, Anastasia K and Stamou, Maria and Kentrou, Andromachi and Tsermpini, Evangelia Eirini and Iconomou, Gregoris and Hyphantis, Thomas and Assimakopoulos, Konstantinos
Hormones, ISSN 1109-3099, 09/2018, Volume 17, Issue 3, pp. 383 - 390
ObjectiveGnRH (gonadotropin releasing hormone) is a crucial hormone for sexual development, puberty, and fertility, and its deficiency leads to... 
GnRH deficiency | Sexual function | Psychopathology | TESTOSTERONE REPLACEMENT | HYPOTHALAMIC AMENORRHEA | DEPRESSION | ANXIETY | MODEL | WOMEN | THERAPY | KLINEFELTER-SYNDROME | MEN | ENDOCRINOLOGY & METABOLISM | HYPOGONADISM | Young Adult | Kallmann Syndrome - physiopathology | Humans | Kallmann Syndrome - psychology | Adult | Female | Male | Sexual Behavior - physiology | Gonadotropin-Releasing Hormone - deficiency | Libido - physiology | Personal Satisfaction | Sexual Behavior - psychology
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12. Full Text Role of Gonadotropin-releasing Hormone Stimulation Test in Diagnosing Gonadotropin Deficiency in Both Males and Females with Delayed Puberty
by Qi-Hong Sun Yu Zheng Xiao-Lin Zhang Yi-Ming Mu
中华医学杂志：英文版, ISSN 0366-6999, 2015, Volume 128, Issue 18, pp. 2439 - 2443
Background： Delayed puberty can result either from constitutional delay of growth and puberty （CDP） or idiopathic hypogonadotropic hypogonadism （IHH）.... 
诊断试验 | 黄体生成激素 | 刺激试验 | 青春期 | 促性腺激素释放激素 | GnRH | 男性 | 女性 | Constitutional delay of growth and puberty | Idiopathic hypogonadotropic hypogonadism | Delayed puberty | Gonadotropin‑releasing hormone | RESPONSES | MEDICINE, GENERAL & INTERNAL | Idiopathic Hypogonadotropic Hypogonadism | CONSTITUTIONAL DELAY | Constitutional Delay of Growth and Puberty | BOYS | LEUPROLIDE ACETATE | Gonadotropin-releasing Hormone | HYPOGONADOTROPIC HYPOGONADISM | AGONIST | Luteinizing Hormone - blood | Humans | Gonadotropin-Releasing Hormone - pharmacology | Male | Puberty, Delayed - diagnosis | Puberty, Delayed - blood | Sensitivity and Specificity | Adolescent | Follicle Stimulating Hormone - blood | Female | Hypogonadism - diagnosis | Hypothalamus - drug effects | Gonadotropins - deficiency | Hypogonadism - blood | Pituitary Gland - drug effects | Deficiency diseases | Medical tests | Gonadotropin | Diagnosis | Health aspects | Methods | Studies | Puberty | Accuracy | Androgens | Chinese medicine | Statistical analysis | Females | Males | Age | Endocrinology | Children & youth | Original | Constitutional Delay of Growth and Puberty; Delayed puberty; Gonadotropin-releasing Hormone; Idiopathic Hypogonadotropic Hypogonadism
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13. Full Text Progesterone administration for luteal phase deficiency in human reproduction: An old or new issue?
by Palomba, Stefano and Santagni, Susanna and La Sala, Giovanni Battista
Journal of Ovarian Research, ISSN 1757-2215, 11/2015, Volume 8, Issue 1, p. 77
Luteal phase deficiency (LPD) is described as a condition of insufficient progesterone exposure to maintain a regular secretory endometrium and allow for... 
Implantation | ART | Luteal phase deficiency | Progesterone | Endometrium | POLYCYSTIC-OVARY-SYNDROME | HUMAN CHORIONIC-GONADOTROPIN | CLOMIPHENE CITRATE CYCLES | IMPAIRED ENDOMETRIAL RECEPTIVITY | TRIAL COMPARING FRESH | FINAL OOCYTE MATURATION | REPRODUCTIVE BIOLOGY | FREEZE-ALL POLICY | FROZEN EMBRYO-TRANSFER | IN-VITRO FERTILIZATION | GNRH-AGONIST | Endometrium - physiology | Embryo Implantation - drug effects | Progestins - therapeutic use | Humans | Gonadotropins - therapeutic use | Cryopreservation - methods | Luteal Phase - drug effects | Reproductive Techniques, Assisted | Progesterone - therapeutic use | Fertility Agents, Female - therapeutic use | Infertility, Female - drug therapy | Ovulation Induction - methods | Ovarian Hyperstimulation Syndrome - prevention & control | Fertilization in Vitro - methods | Menstruation Disturbances - drug therapy | Female | Physiological aspects | Embryonic development | Research
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