Isolated growth hormone deficiency

Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).

Different Conditions

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Related ICD 10 COde
ICD 10 Code E23.0

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Autosomal recessive hyperimmunoglobulin E syndrome

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E.

Also Known As

  • CID - [combined immunodeficiency] due to DOCK8 - [dedicator of cytokinesis 8 protein] deficiency
  • Related ICD 10 COde
    ICD 10 Code D81

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    Also Known As

  • CID - [combined immunodeficiency] due to Ikaros deficiency
  • Related ICD 10 COde
    ICD 10 Code D81

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    Combined immunodeficiency due to CRAC channel dysfunction

    Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to calcium release activated Ca2+ (CRAC) channel dysfunction. It is characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhidrosis.
    Related ICD 10 COde
    ICD 10 Code D81

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    Congenital hypogonadotropic hypogonadism

    This is a condition which is characterized by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production. This diagnosis is associated with other endocrinopathies.
    Related ICD 10 COde
    ICD 10 Code E23.0

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    Genetic growth hormone deficiency

    This refers to a x-linked intellectual deficit with an isolated condition, caused by problems arising in the pituitary gland, in which the body does not produce enough growth hormone (GH).
    Related ICD 10 COde
    ICD 10 Code E23.0

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    Also Known As

  • SCID - [Severe combined immunodeficiency] due to winged helix deficiency
  • Related ICD 10 COde
    ICD 10 Code D81

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    Growth hormone deficiency with or without pituitary stalk interruption syndrome

    This refers to an idiopathic condition, caused by problems arising in the pituitary gland, in which the body does not produce enough growth hormone (GH).

    Abbreviated Terms

  • growth hormone insufficiency
  • isolated deficiency of growth hormone
  • isolated growth hormone insufficiency
  • isolated deficiency of human growth hormone [HGH]
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Hereditary hypogammaglobulinaemia or agammaglobulinaemia

    This is a rare X-linked genetic disorder discovered in 1952 that affects the body's ability to fight infection. XLA is an X-linked disorder, and therefore is much more common in males. XLA patients do not generate mature B cells, which manifests as a complete lack of antibodies in their bloodstream.
    Related ICD 10 COde
    ICD 10 Code D80.0

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    Hypofunction or certain specified disorders of pituitary gland

    A disorder manifesting a deficiency or decrease of one or more pituitary hormones, which is caused by a variety of diseases such as tumour, trauma/surgery, irradiation, inflammation and haemorrhage/infarction.

    Organ Affected

    Pituitary structure (body structure)|Entire pituitary gland (body structure)

    Abbreviated Terms

  • hypogonadotropic hypogonadism
  • Simmonds' disease
  • pituitary cachexia
  • fertile eunuch syndrome
  • pituitary short stature
  • amenorrhoea-galactorrhoea syndrome
  • amenorrhoea-hyperprolactinaemia syndrome
  • anterior pituitary hypofunction
  • deficient secretion of all pituitary hormones
  • hypopituitary dwarfism
  • hyposomatotropic dwarfism
  • isolated deficiency of pituitary hormone
  • isolated lutropin deficiency
  • isolated somatotropin deficiency
  • juvenile hypopituitarism
  • myopathy in hypopituitarism
  • non-pregnancy related a-g syndrome
  • olfactogenital dysplasia
  • pituitary dwarfism
  • pituitary gland hypofunction
  • pituitary gland necrosis
  • pituitary hormone deficiency
  • postpartum hypopituitarism
  • postpartum panhypopituitary syndrome
  • postpartum pituitary necrosis
  • prepubertal dwarfism
  • primary hypopituitarism
  • secondary hypogonadism
  • somatotropin deficiency
  • Brissaud's infantilism or dwarfism
  • Simmonds' cachexia
  • panhypopituitarism syndrome
  • infantilism syndrome
  • hypophyseal short stature
  • hypopituitary cachexia
  • hypophyseal dwarfism
  • female infertility associated with pituitary-hypothalamic origin
  • pituitary hypoadrenocorticism
  • ischaemic pituitary necrosis
  • ischaemic postpartum pituitary necrosis
  • prepubertal panhypopituitarism
  • pituitary infantilism
  • pituitary hypogonadism
  • Necrosis of pituitary gland
  • postpartum necrosis of pituitary gland
  • Ahumada-Del Castillo syndrome
  • Lorain-Levi dwarfism
  • Lorain dwarfism
  • Lorain infantilism
  • Also Known As

  • subpituitarism
  • hypophyseal dystrophy
  • hypohypophysism
  • anterior pituitary insufficiency (in part)
  • deficient secretion of one or more pituitary hormones
  • hypopituitarism syndrome
  • pituitary deficiency
  • pituitary failure
  • pituitary hypofunction
  • pituitary insufficiency NOS
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Related ICD 10 COde
    ICD 10 Code E23.0

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    Hypopituitarism

    This refers to non-acquired decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.

    Also Known As

  • Non-acquired pituitary deficiency
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Immunodeficiencies with predominantly antibody defects

    This refers to a hereditary type of primary immune deficiency disease characterized by a reduction in all types of gamma globulins, and rare X-linked genetic disorder that affects the body's ability to fight infection.

    Organ Affected

    Blood (substance)|Structure of immune system (body structure)

    Causes

    immune deficiency

    Abbreviated Terms

  • hereditary agammaglobulinemia antibody deficiency syndrome
  • hereditary absence of gamma globulin in blood
  • hereditary agammaglobulinemia
  • hereditary hypogammaglobulinemia antibody deficiency syndrome
  • congenital sex-linked agammaglobulinemia
  • Swiss type autosomal recessive agammaglobulinaemia
  • SCID - [severe combined immunodeficiency] due to absent lymphoid stem cells
  • Swiss-type agammaglobulinaemia
  • Also Known As

  • hereditary hypogammaglobulinemia
  • hereditary gamma globulin deficiency in blood
  • Related ICD 10 COde
    ICD 10 Code D80.0

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    Isolated agammaglobulinaemia

    Autosomal agammaglobulinemia is a primary immune deficiency characterized by a complete lack of circulating mature B cells, resulting in agammaglobulinemia leading to particular susceptibility to bacterial infections of the respiratory and digestive tracts. Enteroviral meningo-encephalitis is a very severe and not infrequent complication.

    Additional Information

    In addition to the well-known X-linked form of agammaglobulinemia due to mutations in the gene coding for Bruton's tyrosine kinase (Btk), autosomal recessive forms of agammaglobulinemia have been described. The different forms are all characterized by a complete lack of circulating mature B cells, resulting in agammaglobulinemia leading to particular susceptibility to bacterial infections of the respiratory and digestive tracts. Enteroviral meningo-encephalitis is a very severe and not infrequent complication. The only available treatment at present, is intravenous or subcutaneous immunoglobulin replacement therapy. The incidence is very low, around 1/2,000,000 births. Five different molecular abnormalities have been reported, all resulting in defective signaling pathways of the pre-B-cell or the B-cell receptor.

    Abbreviated Terms

  • Lambda5 deficiency
  • Ig alpha deficiency
  • Ig beta deficiency
  • BLNK - [B-cell linker] deficiency
  • Also Known As

  • Agammaglobulinaemia, non-Bruton type
  • Autosomal agammaglobulinaemia
  • Related ICD 10 COde
    ICD 10 Code D80.0

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    Nonacquired combined hypopituitarism

    A clinical status with impaired synthesis/secretion of all six anterior pituitary hormones caused by a variety of tumorous and non-tumorous diseases, manifesting i secondary hypoadrenocorticism, hypothyroidism, and hypognadotropic hypogonadism.
    Related ICD 10 COde
    ICD 10 Code E23.0

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    Nonacquired hypopituitarism

    A rare disorder of impaired synthesis/secretion of follicle-stimulating hormone (FSH) in the pituitary gland, manifesting in hypogonadotropic hypogonadism, usually caused by a mutation of FSH beta subunit gene.

    Also Known As

  • Isolated follicle stimulating hormone deficiency
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Nonacquired isolated growth hormone deficiency

    This syndrome is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

    Also Known As

  • Nanism due to growth hormone qualitative anomaly
  • Kowarski syndrome
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Abbreviated Terms

  • combined t-cell and b-cell immunodeficiency
  • lymphopenic agammaglobulinemia
  • Also Known As

  • Combined T and B cell immunodeficiency
  • combined immunity deficiency
  • combined immunodeficiency syndrome
  • Related ICD 10 COde
    ICD 10 Code D81

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    Short stature due to a defect in growth hormone receptor or post-receptor pathway

    Laron syndrome with immunodeficiency is characterized by severe post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations, associated with immunodeficiency haracterized by moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract.

    Additional Information

    This syndrome is characterized by severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. The patients present typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency is characterized by moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. Severe chronic lung disease, chronic diarrhea, juvenile idiopathic arthritis (see these terms), generalized eczema, pulmonary infections and respiratory distress have already been described. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive. There have been reports of STAT5b mutations resulting in Laron symptoms but not associated with immunodeficiency.
    Related ICD 10 COde
    ICD 10 Code E23.0

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    Syndrome with hypogonadotropic hypogonadism

    Woodhouse-Sakati syndrome is a multisystem disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

    Additional Information

    Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. The disease is transmitted in an autosomal recessive manner and is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.

    Also Known As

  • Diabetes - hypogonadism - deafness - intellectual deficit
  • Related ICD 10 COde
    ICD 10 Code E23.0

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    Syndromic agammaglobulinaemia

    The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive primary immune deficiency characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation.

    Additional Information

    The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Serum levels of IgG, IgM, IgE, and/or IgA are low, although the type of immunoglobulin deficiency is variable. Recurrent infections are the presenting symptom, usually in early childhood. ICF always involves limited hypomethylation of DNA and often arises from mutations in one of the DNA methyltransferase genes (DNMT3B). Much of this DNA hypomethylation is in the 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. By an unknown mechanism, the DNMT3B deficiency that causes ICF interferes with lymphogenesis (at a step after class switching) or lymphocyte activation. With the identification of DNMT3B as the affected gene in a majority of ICF patients, prenatal diagnosis of ICF is possible. However, given the variety of DNMT3B mutations, a first-degree affected relative should first have both alleles of this gene sequenced. Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried.

    Also Known As

  • Immunodeficiency - centromeric instability - facial anomalies
  • Centromeric instability immunodeficiency syndrome
  • Related ICD 10 COde
    ICD 10 Code D80.0

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