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98 Possible Causes for Delayed Puberty - Metabolic: Episodic Hypoglycemia, Increased Serum Creatine Phosphate

  • 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]

  • Duchenne Muscular Dystrophy

    The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Spinal and Bulbar Muscular Atrophy

    Abstract Introduction: Spinobulbar muscular atrophy (SBMA) is an inherited adult‐onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic[…][dx.doi.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Becker Muscular Dystrophy

    Becker and Kiener initially described Becker muscular dystrophy (BMD) in 1955. [1, 2] BMD is an inherited disease with a male distribution pattern and a clinical picture similar to that of Duchenne muscular dystrophy (DMD). BMD is generally milder than DMD, and the onset of symptoms usually occurs later. The clinical[…][emedicine.com]

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

    Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required.[clinicalgate.com] […] should be treated aggressively by increasing the fluid intake.[clinicalgate.com] There is evidence that an oral sucrose load before activity can increase exercise tolerance, but this may not be practical in every circumstance. 12 Myoglobinuria and rhabdomyolysis[clinicalgate.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Muscular Dystrophy-Dystroglycanopathy Type C14

    1 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. ( 23687351 ) 2013 2 Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. ( 21109228 )[…][malacards.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Limb-Girdle Muscular Dystrophy Type 1E

    Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Emery-Dreifuss Muscular Dystrophy Type 1

    Neuropediatrics 2017; 48(S 01): S1-S45 DOI: 10.1055/s-0037-1603007 Georg Thieme Verlag KG Stuttgart · New York O. Schwartz 1 Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Bereich Neuropädiatrie, Deutschland J. Althaus 1 Universitätsklinikum Münster, Klinik für Kinder- und[…][thieme-connect.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Limb-Girdle Muscular Dystrophy Type 2E

    READ ORPHA.NET WEBSITE ABOUT BETA-SARCOGLYOCANOPATHY LIMB-GIRDLE MUSCULAR DYSTROPHIES (LGMD) Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is[…][beta-sarcoglicanopathy.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Limb-Girdle Muscular Dystrophy Type 1H

    Abstract Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic girdles. We clinically examined 19 members in a four-generation Italian family with autosomal-dominant LGMD. A total of 11 subjects were[…][doi.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia

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