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27 Possible Causes for Delayed Puberty - Metabolic: Episodic Hypoglycemia, Glycogen Accumulation Seen on Biopsy

  • Congenital Disorder of Glycosylation Type 1T

    Phosphoglucomutase ( EC 5.4.2.2 ) is an enzyme that transfers a phosphate group on an α-D- glucose monomer from the 1' to the 6' position in the forward direction or the 6' to the 1' position in the reverse direction. More precisely, it facilitates the interconversion of glucose 1-phosphate and glucose 6-phosphate[…][en.wikipedia.org]

  • Myositis

    […] is typically milder, with no significant denervation, amyloid deposition or abnormal glycogen accumulation which may be seen in IBM and glycogen storage disorders( 2 ).[ncbi.nlm.nih.gov] Endomysial and perimysial inflammatory infiltrates have been noted in up to 30% of muscle biopsies from patients with anti-HMGCR autoantibodies, but the degree of inflammation[ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Secondary Myopathy

    accumulation in proximity to abnormal mitochondria, as seen in patients with inherited mitochondrial myopathies [ 36 ].[hiv.imedpub.com] Excessive glycogen accumulation has also been observed in biopsy specimen from skin, endomyocardium and cultured muscle.[annalsofneurosciences.org] Treatment If NRTI myopathy is suspected clinically or evidence of a mitochondrial myopathy is found on muscle biopsy, the drug should be discontinued and alternate drug initiated[hiv.imedpub.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Myopathy

    accumulation in proximity to abnormal mitochondria, as seen in patients with inherited mitochondrial myopathies [ 36 ].[hiv.imedpub.com] Treatment If NRTI myopathy is suspected clinically or evidence of a mitochondrial myopathy is found on muscle biopsy, the drug should be discontinued and alternate drug initiated[hiv.imedpub.com] […] mitochondrial myopathy with "ragged-red" fibers seen on trichrome stain, indicative of abnormal mitochondria with paracrystalline inclusions [ 11 ], and significant lipid and glycogen[hiv.imedpub.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Glycogen Storage Disease Type 3

    As a result of defective activity, an abnormal glycogen with short outer branch chains (limit dextrin) accumulates and may be seen on liver biopsy, causing hepatomegaly and[journals.lww.com] GSD III is caused by a deficiency of glycogen debranching enzyme activity, which, together with phopshorylase, is responsible for a complete degradation of glycogen (3).[journals.lww.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Glycogen Storage Disease Type 7

    Diagnosis is by muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest accumulation of glycogen.[agsd.org.uk] The red protein myoglobin is released and red-brown urine may be seen.[agsd.org.uk]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Glycogen Storage Disease Type 2

    Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] In advanced stages of the disease, glycogen accumulation is seen both in the lysosomes and dispersed in the cytosol.[dx.doi.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Excessive glycogen accumulation has also been observed in biopsy specimen from skin, endomyocardium and cultured muscle.[annalsofneurosciences.org] Liver Biopsy Histology Histology usually shows distended hepatocytes as a result of excess glycogen accumulation.[ncbi.nlm.nih.gov] Glycogen-laden lysosomes often are seen but are not as frequent as in acid maltase deficiency.[annalsofneurosciences.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Jamaican Vomiting Sickness

    Fatty acids accumulate in the liver in a microvesicular pattern that can be seen on biopsy.[en.wikipedia.org] In the absence of fatty acid metabolism, the body becomes dependent on glucose and glycogen for energy.[en.wikipedia.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    Excessive glycogen accumulation has also been observed in biopsy specimen from skin, endomyocardium and cultured muscle.[annalsofneurosciences.org] Glycogen-laden lysosomes often are seen but are not as frequent as in acid maltase deficiency.[annalsofneurosciences.org] By electron microscopy, the vacuoles correspond to large pools of free and apparently normal glycogen particles.[annalsofneurosciences.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia

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