Create issue ticket

107 Possible Causes for Kallmann Syndrome, Osteopenia, Variable Expressivity within a Family

  • Hypogonadotropic Hypogonadism Type 8

    Kallmann syndrome - absent puberty with no sense of smell. Me at 18 years old in my final year at school. I had not started puberty yet.[imgur.com] First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com] Decreased testicular size ; Delayed skeletal maturation ; Gonadotropin deficiency ; Gynecomastia ; Hypogonadotrophic hypogonadism ; Hypoplasia of the uterus ; Micropenis ; Osteopenia[mousephenotype.org]

  • Hypogonadotropic Hypogonadism Type 21

    […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis[ncbi.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism Type 18

    syndrome", abstract "The genetic basis is unknown for 60{\%} of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS).[augusta.pure.elsevier.com] First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com] Women with hypogonadotropic hypogonadism are at a high risk of dislipidemia, urogenital disorders and osteopenia.[endocrine-abstracts.org]

  • Kallmann Syndrome

    Kallmann syndrome is the result of a genetic defect.[symptoma.com] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] Osteopenia and reduced vitamin D levels of 21 nmol/L were identified. He was found to harbor a heterozygous factor-V-Leiden mutation.[ncbi.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism Type 20

    Prognosis - Kallmann syndrome - type 1 Treatment - Kallmann syndrome - type 1 Resources - Kallmann syndrome - type 1[checkorphan.org] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis[ncbi.nlm.nih.gov]

  • Kallmann Syndrome Type 2

    The respective patients are diagnosed with Kallmann syndrome type 2.[symptoma.com] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] Bone density scan ( DXA ) to check for osteoporosis or osteopenia. [3] [2] Treatment [ edit ] Testosterone gel sachets, Testosterone undecanoate injection (Nebido), Human[en.wikipedia.org]

  • Hypogonadotropic Hypogonadism Type 19 

    […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] expressivity of FGFR1 mutations was noticed within families (Figure 1 ).[ojrd.biomedcentral.com] Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis[ncbi.nlm.nih.gov]

  • Hereditary Hyperphosphatasia

    UPD chr. 14 Kallmann syndrome type 2 FGFR1 Kallmann syndrome type 4 PROK2 Kallmann syndrome type 5 CHD7 KBG syndrome ANKRD11 Keutel syndrome MGP Kleefstra syndrome EHMT1[centogene.com] Beighton R Hamersma H, Horan F (1979) Craniometaphyseal dysplasia: variability of expression within a large family. Clin Genet 15:252-258 5.[slideheaven.com] […] in the world literature) autosomal recessive osteopathy (OMIM:239000) that presents in infancy or early childhood and is characterised by rapid remodelling of woven bone, osteopenia[medical-dictionary.thefreedictionary.com]

  • CHARGE Syndrome

    We report on a 14 7/12-year-old Japanese female patient with CHARGE syndrome and CHD7 mutation who also exhibited Kallmann syndrome (KS) phenotype.[ncbi.nlm.nih.gov] CHARGE syndrome shows extremely variable expressivity, even within the same family.[invitae.com] […] stature only, seven with short stature and hypogonadotrophic hypogonadism (HH: delayed puberty, hypoplastic genitalia and/or undescended testis), 12 with HH and one with osteopenia[endocrine-abstracts.org]

  • Mesomelic Dysplasia Type Savarirayan

    […] punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain-lung-thyroid syndrome Bruck syndrome[se-atlas.de] Journal of Paediatrics and Child Health. 33. 1997 Osteopathia striata with cranial sclerosis: Highly variable phenotypic expression within a family.[findanexpert.unimelb.edu.au] Osteopenia. D Bowed femora. Coxa valga. Abnormal trabecularpattern. E 15 years old. The tubular bones of the hands are shortened and wide.[dokumen.tips]

Similar symptoms