I. THYROID DISORDERS Glossary

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Hypothyroidism (Hashimoto's Thyroiditis)

An autoimmune condition where the thyroid gland doesn't produce enough hormone. Causes: Immune system attacks thyroid tissue. Symptoms: Fatigue, weight gain, cold intolerance, constipation, dry skin. Treatment: Levothyroxine hormone replacement therapy.

Hyperthyroidism (Graves' Disease)

An autoimmune disorder causing excess thyroid hormone production. Causes: Genetic predisposition with environmental triggers. Symptoms: Weight loss, rapid heartbeat, anxiety, heat intolerance, hand tremor. Treatment: Antithyroid medications, radioactive iodine ablation, or thyroidectomy.

Thyroid Nodules

Lumps or growths within the thyroid gland, most are benign. Causes: Iodine deficiency, thyroiditis, or rarely thyroid cancer. Symptoms: Often none; may cause neck lump, swallowing difficulty, or voice changes. Management: Ultrasound monitoring, fine-needle aspiration biopsy, or surgical removal if suspicious.

Thyroid Cancer (Papillary & Follicular)

Malignant tumors of the thyroid gland with excellent prognosis. Causes: Radiation exposure, genetic mutations, family history. Symptoms: Neck lump, hoarseness, swollen lymph nodes. Treatment: Total thyroidectomy, radioactive iodine therapy, TSH suppression therapy.

Hypothyroidism in Pregnancy

Underactive thyroid during pregnancy requiring careful management. Causes: Hashimoto's thyroiditis, iodine deficiency. Symptoms: Fatigue, weight gain, poor fetal growth, increased miscarriage risk. Treatment: Levothyroxine dose adjustment with frequent monitoring.

Thyroid Eye Disease (Graves' Orbitopathy)

Autoimmune inflammation of orbital tissues in Graves' disease. Causes: Autoantibodies attack eye muscles and fat. Symptoms: Bulging eyes (proptosis), double vision, dry eyes, eyelid retraction. Treatment: Steroids, orbital decompression surgery, teprotumumab, or radiation.

Subacute Thyroiditis (De Quervain's)

Painful inflammation of the thyroid gland, often post-viral. Causes: Viral infection (mumps, Coxsackie). Symptoms: Neck pain, fever, fatigue, transient hyperthyroidism followed by hypothyroidism. Treatment: NSAIDs, beta-blockers, corticosteroids for severe cases.

Goiter (Enlarged Thyroid)

Abnormal enlargement of the thyroid gland. Causes: Iodine deficiency, Hashimoto's, Graves' disease, thyroid nodules. Symptoms: Visible neck swelling, fullness, breathing or swallowing difficulty. Treatment: Iodine supplementation, levothyroxine, or surgical removal for large goiters.

Amiodarone-Induced Thyroid Dysfunction

Thyroid dysfunction caused by amiodarone, a heart medication. Causes: High iodine content in amiodarone triggers thyroiditis. Symptoms: Can cause either hypothyroidism or hyperthyroidism. Treatment: Dose adjustment of amiodarone, antithyroid drugs, or levothyroxine as needed.

Lithium-Induced Thyroid/Parathyroid Issues

Endocrine side effects from lithium therapy used in psychiatric disorders. Causes: Lithium interferes with thyroid hormone synthesis. Symptoms: Goiter, hypothyroidism, rarely hypercalcemia. Treatment: Levothyroxine supplementation while continuing lithium therapy.

Postpartum Thyroiditis

Thyroid inflammation occurring within the first year after childbirth. Causes: Autoimmune flare triggered by pregnancy immune changes. Symptoms: Transient hyperthyroidism followed by hypothyroidism; fatigue, palpitations. Treatment: Symptomatic management; most recover normal thyroid function within 12-18 months.

II. PEDIATRIC ENDOCRINOLOGY Glossary

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Short Stature in Children (General Overview)

Height below the 3rd percentile for age and gender. Causes: Familial short stature, constitutional delay, hormonal disorders, chronic illness. Symptoms: Slower growth rate than peers. Management: Growth monitoring, bone age assessment, treat underlying cause.

Short Stature (Constitutional Delay/Late Bloomers)

Temporary growth delay with delayed bone age and puberty. Causes: Genetic tendency, normal variant. Symptoms: Short during childhood with late growth spurt; final adult height normal. Management: Reassurance, monitoring, no treatment needed in most cases.

Idiopathic Short Stature (ISS)

Short stature with no identifiable medical cause. Causes: Unknown; not due to GH deficiency or chronic disease. Symptoms: Height significantly below average with normal growth velocity. Treatment: Recombinant growth hormone may be considered in severe cases.

Growth Hormone Deficiency (GHD) in Children

Insufficient growth hormone production by the pituitary gland. Causes: Congenital, pituitary tumors, cranial radiation, trauma. Symptoms: Very slow growth, delayed bone age, young facial appearance. Treatment: Daily subcutaneous recombinant growth hormone injections.

Gigantism (Pediatric Pituitary Tumor)

Excess growth hormone before growth plate closure causing excessive height. Causes: Pituitary adenoma secreting GH. Symptoms: Rapid excessive growth, tall stature, large hands/feet. Treatment: Transsphenoidal surgery, somatostatin analogs, or radiotherapy.

Small for Gestational Age (SGA) & Catch-Up Growth

Infants with birth weight/height below 10th percentile. Causes: Intrauterine growth restriction, placental insufficiency, maternal factors. Symptoms: Small at birth; most catch up by age 2. Treatment: Growth hormone therapy for those who remain short.

Precocious Puberty (Early Puberty)

Onset of puberty before age 8 in girls or 9 in boys. Causes: Idiopathic, CNS tumors, genetic syndromes. Symptoms: Early breast development, pubic hair, growth spurt. Treatment: GnRH analogs to pause puberty until appropriate age.

Delayed Puberty

Absence of puberty by age 13 in girls or 14 in boys. Causes: Constitutional delay, hypogonadism, chronic illness. Symptoms: Lack of secondary sexual characteristics. Treatment: Observation for constitutional delay; sex hormone therapy for hypogonadism.

Premature Adrenarche

Early onset of adrenal androgen production before age 8. Causes: Benign early maturation of adrenal glands. Symptoms: Early pubic/axillary hair, body odor, no breast/testes enlargement. Management: Monitoring for progression to true precocious puberty; usually benign.

Micropenis in Infants

A normally formed penis that is stretched length below 2.5 SD for age. Causes: Hormonal deficiencies (GHD, hypogonadism). Symptoms: Small penile size at birth, otherwise normal structure. Treatment: Short course of testosterone to stimulate growth; evaluate for underlying endocrine disorders.

Congenital Hypothyroidism

Missing or underactive thyroid gland present from birth. Causes: Thyroid dysgenesis, dyshormonogenesis. Symptoms: Poor feeding, jaundice, constipation, large fontanelles, lethargy. Treatment: Lifelong levothyroxine therapy started immediately after diagnosis.

Pediatric Graves' Disease

Autoimmune hyperthyroidism occurring in children and adolescents. Causes: Thyroid-stimulating immunoglobulins. Symptoms: Weight loss, palpitations, poor school performance, tremor, goiter. Treatment: Antithyroid medications (methimazole) as first-line; RAI or surgery if refractory.

Hashimoto's in Children

Autoimmune thyroiditis causing hypothyroidism in pediatric patients. Causes: Genetic predisposition, autoimmune. Symptoms: Goiter, fatigue, slow growth, weight gain, delayed puberty. Treatment: Levothyroxine replacement when TSH is elevated.

Type 2 Diabetes in Youth

Insulin resistance and hyperglycemia in children and adolescents. Causes: Obesity, sedentary lifestyle, family history. Symptoms: Frequent urination, excessive thirst, acanthosis nigricans. Treatment: Metformin, lifestyle modification, weight loss, ± insulin if severe.

Neonatal Hypoglycemia

Low blood glucose in newborns requiring prompt identification. Causes: Maternal diabetes, prematurity, SGA, hyperinsulinism. Symptoms: Jitteriness, poor feeding, hypothermia, seizures in severe cases. Treatment: Frequent feeds, IV dextrose, monitor glucose levels.

Congenital Hyperinsulinism (CHI)

Persistent insulin excess from birth causing severe hypoglycemia. Causes: Genetic mutations affecting insulin secretion regulation. Symptoms: Recurrent severe hypoglycemia, macrosomia. Treatment: Diazoxide, octreotide, or subtotal pancreatectomy for refractory cases.

Rickets (Nutritional)

Bone softening due to vitamin D deficiency in children. Causes: Inadequate sun exposure, poor dietary intake, malabsorption. Symptoms: Bowed legs, bone pain, delayed walking, growth retardation. Treatment: High-dose vitamin D supplementation with calcium.

Vitamin D Resistant Rickets (XLH)

X-linked dominant disorder causing renal phosphate wasting. Causes: PHEX gene mutation leading to FGF23 excess. Symptoms: Bowed legs, short stature, dental abscesses. Treatment: Oral phosphate supplements and active vitamin D (calcitriol).

Osteogenesis Imperfecta (OI)

Genetic disorder causing brittle bones that fracture easily. Causes: Collagen type 1 gene mutations (COL1A1/COL1A2). Symptoms: Frequent fractures, blue sclera, hearing loss, short stature. Management: Bisphosphonates, physical therapy, orthopedic surgery for fractures.

Hypophosphatasia (HPP)

Rare genetic disorder with defective bone mineralization. Causes: ALPL gene mutation causing low alkaline phosphatase. Symptoms: Poor bone mineralization, fractures, premature tooth loss. Treatment: Enzyme replacement therapy (asfotase alfa) for severe cases.

III. DIABETES & METABOLISM Glossary

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Pre-Diabetes

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Type 1 Diabetes

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Type 2 Diabetes

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Gestational Diabetes (GDM)

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LADA (Latent Autoimmune Diabetes in Adults)

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MODY (Maturity-Onset Diabetes of the Young)

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Hypoglycemia (Low Blood Sugar - The 15/15 Rule)

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Continuous Glucose Monitoring (CGM)

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Diabetic Neuropathy

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Diabetic Kidney Disease (Nephropathy)

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Diabetic Ketoacidosis (DKA)

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Hyperosmolar Hyperglycemic State (HHS)

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Non-Diabetic Hypoglycemia

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Autoimmune Hypoglycemia (Hirata Disease)

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IV. ADRENAL DISORDERS Glossary

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Adrenal Insufficiency & Addison's Disease

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Adrenal Crisis (Emergency Education)

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Adrenal Suppression (Steroid Withdrawal)

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Cushing's Syndrome (General)

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Primary Hyperaldosteronism (Conn's Syndrome)

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Pheochromocytoma

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Adrenal Incidentaloma

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Adrenal Cancer (Adrenocortical Carcinoma)

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Congenital Adrenal Hyperplasia (Classic CAH)

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Congenital Adrenal Hyperplasia (Non-Classic CAH)

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Non-Classic CAH in Pregnancy

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Nelson's Syndrome

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V. PITUITARY & NEUROENDOCRINOLOGY Glossary

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Non-Functioning Pituitary Adenoma

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Prolactinoma

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Acromegaly

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Cushing's Disease (Pituitary Tumor)

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TSH-Secreting Pituitary Adenoma (TSHoma)

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Craniopharyngioma

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Hypopituitarism

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Adult Growth Hormone Deficiency (AGHD)

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Diabetes Insipidus (Water Diabetes)

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SIADH (Syndrome of Inappropriate ADH)

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Empty Sella Syndrome

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Pituitary Apoplexy

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Lymphocytic Hypophysitis

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VI. REPRODUCTIVE ENDOCRINOLOGY Glossary

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Polycystic Ovary Syndrome (PCOS)

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Primary Ovarian Insufficiency (POI)

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Hirsutism (Excess Hair Growth)

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Menopause Management

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Turner Syndrome (Pediatric Focus)

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Turner Syndrome (General/Adult)

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Male Hypogonadism (Low Testosterone)

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Gynecomastia

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Klinefelter Syndrome (XXY)

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Anabolic Steroid Induced Hypogonadism (ASIH)

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Kallmann Syndrome

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Prostate Cancer and Bone Health

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Gender-Affirming Hormone Therapy (Transgender Women)

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Gender-Affirming Hormone Therapy (Transgender Men)

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Transgender Care: Puberty Blockers

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Transgender Care: Fertility Preservation

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VII. BONE & CALCIUM Glossary

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Osteoporosis in Men

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Osteoporosis vs. Osteopenia

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Primary Hyperparathyroidism

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Parathyroid Carcinoma

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Hypoparathyroidism

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Pseudohypoparathyroidism

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Vitamin D Deficiency

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Paget's Disease of Bone

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Hypercalcemia (High Calcium)

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Hypocalcemia (Low Calcium)

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Metabolic Bone Disease in CKD (Renal Osteodystrophy)

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Albright Hereditary Osteodystrophy (AHO)

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VIII. OBESITY, LIPIDS & METABOLISM Glossary

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Obesity & GLP-1 Agonists

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Metabolic Syndrome

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Dyslipidemia (Cholesterol)

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Hypertriglyceridemia

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Familial Hypercholesterolemia (FH)

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Lipodystrophy

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Post-Bariatric Hypoglycemia

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Acanthosis Nigricans

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Steroid-Induced Hyperglycemia

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IX. NEUROENDOCRINE TUMORS (NETs) Glossary

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Carcinoid Syndrome

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Insulinoma

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Gastrinoma (Zollinger-Ellison Syndrome)

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Glucagonoma

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VIPoma

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Somatostatinoma

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X. GENETIC SYNDROMES, ELECTROLYTES & RARE CONDITIONS Glossary

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Multiple Endocrine Neoplasia Type 1 (MEN1)

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Multiple Endocrine Neoplasia Type 2 (MEN2)

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Multiple Endocrine Neoplasia Type 2B (MEN2B)

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Autoimmune Polyglandular Syndrome Type 1 (APS-1)

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Autoimmune Polyglandular Syndrome Type 2 (APS-2)

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Hemochromatosis ("Bronze Diabetes")

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Porphyria (Acute Intermittent)

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Prader-Willi Syndrome (PWS)

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Noonan Syndrome

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McCune-Albright Syndrome

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Carney Complex

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Wolfram Syndrome

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Ambiguous Genitalia (DSD)

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Lipid Disorders in HIV

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Checkpoint Inhibitor Endocrinology

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Hyponatremia (Low Sodium)

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Differential Diagnosis of Hyponatremia

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Hypokalemia (Low Potassium)

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Hyperkalemia (High Potassium)

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