Xxy Klinefelter Child

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Bottazzo GF. Death of a beta cell: homicide or suicide? Diabetic Med 1986; 3: 119-30

Chiasson JL, Gomis R, Hanefeld M, et al. The STOP-NIDDM Trial: an international study on the efficacy of an alpha-glucosidase inhibitor to prevent type 2 diabetes in a population with impaired glucose tolerance: rationale, design, and preliminary screening data. Study to Prevent Non-Insulin-Dependent Diabetes Mellitus. Diabetes Care 1998; 21: 1720-5

DeFronzo R. The triumvirate: ß-cell, muscle, liver. A collusion responsible for NIDDM. Diabetes 1988; 37: 667-75

DeFronzo RA. Pathogenesis of type 2 diabetes mellitus. Med Clin North Am 2004; 88: 787-835

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Diabetes Type Pathogenesis

Figure 8 Type 2 diabetes mellitus (DM) is strongly associated with obesity and this link has been recognized for centuries. The risk of developing type 2 DM increases progressively with rising body mass index. Type 2 DM is the result of increased insulin resistance and insulin deficiency. Obesity is strongly associated with insulin resistance and high fasting insulin levels. It has been proposed that this may ultimately result in P-cell failure and the emergence of type 2 DM; however, this theory is oversimplistic and the precise cause of type 2 DM remains unknown except in a few cases of identified genetic abnormalities

Prader Syndrome Fig

Figure 9 Prader-Willi syndrome is a syndrome of obesity, muscular hypotonia, hypogonadotropic hypogonadism and mental retardation associated, in around 50% of cases, with a deletion or translocation of chromosome 15. A small percentage of patients have type 2 diabetes mellitus

Figure 8 Type 2 diabetes mellitus (DM) is strongly associated with obesity and this link has been recognized for centuries. The risk of developing type 2 DM increases progressively with rising body mass index. Type 2 DM is the result of increased insulin resistance and insulin deficiency. Obesity is strongly associated with insulin resistance and high fasting insulin levels. It has been proposed that this may ultimately result in P-cell failure and the emergence of type 2 DM; however, this theory is oversimplistic and the precise cause of type 2 DM remains unknown except in a few cases of identified genetic abnormalities

Figure 9 Prader-Willi syndrome is a syndrome of obesity, muscular hypotonia, hypogonadotropic hypogonadism and mental retardation associated, in around 50% of cases, with a deletion or translocation of chromosome 15. A small percentage of patients have type 2 diabetes mellitus

Cushing Disease
Figure 10 The centripetal obesity and prominent lipid striae suggest that this is Cushing's syndrome and not simple obesity
Hypogonadotropic Hypogonadism

Figure 11 This young woman (same patient as in Figure 10) has the typical facies of Cushing's syndrome - a rounded plethoric face and mild hirsutism. Glucose tolerance is impaired in most patients with Cushing's syndrome and around 25% of patients are diabetic. However, many older patients with type 2 diabetes mellitus have features of Cushing's syndrome, specifically, obesity, hirsutism, hypertension, striae and diabetes, but do not have the condition

Figure 11 This young woman (same patient as in Figure 10) has the typical facies of Cushing's syndrome - a rounded plethoric face and mild hirsutism. Glucose tolerance is impaired in most patients with Cushing's syndrome and around 25% of patients are diabetic. However, many older patients with type 2 diabetes mellitus have features of Cushing's syndrome, specifically, obesity, hirsutism, hypertension, striae and diabetes, but do not have the condition

Cushing Hirsutism

Figure 12 Diabetes occurs in 15-30% of patients with acromegaly and similarly with impaired glucose tolerance. The excess growth hormone secretion, usually from a pituitary adenoma, is associated with insulin resistance which, after several years, may result in the diabetic state. The diabetes is usually type 2, and is associated with the usual microvascular and other complications. Glucose tolerance improves after successful treatment of the acromegaly

Figure 12 Diabetes occurs in 15-30% of patients with acromegaly and similarly with impaired glucose tolerance. The excess growth hormone secretion, usually from a pituitary adenoma, is associated with insulin resistance which, after several years, may result in the diabetic state. The diabetes is usually type 2, and is associated with the usual microvascular and other complications. Glucose tolerance improves after successful treatment of the acromegaly

Addison Disease Face

Figure 13 About 10% of patients with Addison's disease have diabetes, usually type 1. Diabetic patients who develop Addison's disease exhibit an increased sensitivity to insulin which is reversed by glucocorticoid replacement therapy. Addison's disease and associated type 1 DM or other autoimmune endocrinopathy (such as hypothyroidism, Graves' disease, hypoparathyroidism) is referred to as Schmidt's syndrome

Figure 13 About 10% of patients with Addison's disease have diabetes, usually type 1. Diabetic patients who develop Addison's disease exhibit an increased sensitivity to insulin which is reversed by glucocorticoid replacement therapy. Addison's disease and associated type 1 DM or other autoimmune endocrinopathy (such as hypothyroidism, Graves' disease, hypoparathyroidism) is referred to as Schmidt's syndrome

Years Old Klinefelter Sindrome

Figure 14 This patient has hereditary hemochromatosis transmitted by an autosomal recessive gene. It occurs most commonly as a result of a mutation in a gene HFE - on the short arm of chromosome 6. Patients present with the classic triad of bronze skin pigmentation, hepatomegaly and diabetes mellitus (hence the term 'bronze diabetes'). Cardiac manifestations and pituitary dysfunction also occur

Figure 14 This patient has hereditary hemochromatosis transmitted by an autosomal recessive gene. It occurs most commonly as a result of a mutation in a gene HFE - on the short arm of chromosome 6. Patients present with the classic triad of bronze skin pigmentation, hepatomegaly and diabetes mellitus (hence the term 'bronze diabetes'). Cardiac manifestations and pituitary dysfunction also occur

Figure 15 Of the patients who have Klinefelter's syndrome (47,XXY karyotype), 26% show diabetes on the oral glucose tolerance test, but overt symptomatic diabetes is unusual. The cause of the diabetes is not known, but may be related to insulin resistance

Acromegalic Facies
Figure 16 Diabetes is present in around 60% of young adults with Turner's syndrome (45,XO karyotype) and is usually type 2. A paradoxic rise in growth hormone to oral glucose may be the cause of the glucose intolerance
Turner Syndrome Karyotype

Figure 18 This 13-year-old boy with Rabson-Mendenhall syndrome exhibits severe insulin resistance (moderate hyperglycemia associated with gross elevation of plasma insulin levels). Typically associated features include stunted growth and acanthosis nigricans, affecting the neck, axillae and antecubital fossae, and a characteristic facies

Figure 18 This 13-year-old boy with Rabson-Mendenhall syndrome exhibits severe insulin resistance (moderate hyperglycemia associated with gross elevation of plasma insulin levels). Typically associated features include stunted growth and acanthosis nigricans, affecting the neck, axillae and antecubital fossae, and a characteristic facies

Morbid Obesity Children

Figure 19 This young child has morbid obesity. As the age of peak incidence of diabetes declines, cases of type 2 diabetes are now being identified in such children and in young adolescents, especially in highly susceptible ethnic groups. The health consequences of this phenomenon are likely to be immense

Figure 19 This young child has morbid obesity. As the age of peak incidence of diabetes declines, cases of type 2 diabetes are now being identified in such children and in young adolescents, especially in highly susceptible ethnic groups. The health consequences of this phenomenon are likely to be immense

Glycogenolysis

Figure 20 Glucose is produced in the liver by the process of gluconeogenesis and glycogenolysis. The main substrates for gluconeogenesis are the glucogenic amino acids (alanine and glutamine), glycerol, lactate and pyruvate. Many factors influence the rate of gluconeogenesis; it is suppressed by insulin and stimulated by the sympathetic nervous system. Glycogenolysis (the breakdown of hepatic glycogen to release glucose) is stimulated by glucagon and catecholamines, but is inhibited by insulin

Figure 20 Glucose is produced in the liver by the process of gluconeogenesis and glycogenolysis. The main substrates for gluconeogenesis are the glucogenic amino acids (alanine and glutamine), glycerol, lactate and pyruvate. Many factors influence the rate of gluconeogenesis; it is suppressed by insulin and stimulated by the sympathetic nervous system. Glycogenolysis (the breakdown of hepatic glycogen to release glucose) is stimulated by glucagon and catecholamines, but is inhibited by insulin

Biphasic Insulin Response

Figure 21 Biphasic insulin response to a constant glucose stimulus: when the P-cell is stimulated, there is a rapid first-phase insulin response 1-3 min after the glucose level is increased; this returns towards baseline 6-10 min later. Thereafter, there is a gradual second-phase insulin response that persists for the duration of the stimulus. Type 2 diabetes mellitus is characterized by loss of the first-phase insulin response and a diminished second-phase response

Figure 21 Biphasic insulin response to a constant glucose stimulus: when the P-cell is stimulated, there is a rapid first-phase insulin response 1-3 min after the glucose level is increased; this returns towards baseline 6-10 min later. Thereafter, there is a gradual second-phase insulin response that persists for the duration of the stimulus. Type 2 diabetes mellitus is characterized by loss of the first-phase insulin response and a diminished second-phase response

The biochemical consequences of insulin deficiency

Diabetic Dermopathy

Liver

Muscle

Adipose tissue

Liver

Liver

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Responses

  • Vanna
    What is the most severe case of prader willi syndrome?
    6 years ago
  • Simret
    What is the treatment for klinefelter syndrome?
    6 years ago
  • gregorio
    Is addison's disease a genetic disorder?
    6 years ago
  • anna
    Is graves disease hereditary?
    6 years ago
  • EMPPU LITMANEN
    Can you have addisons without pigmentation of skin?
    6 years ago
  • patrick mueller
    What is obesity hypoventilation syndrome?
    6 years ago
  • ANGELICA GAUKROGERS
    What is cushings disease?
    6 years ago
  • Jasper
    Is turner syndrome a mutation?
    6 years ago
  • tyler
    How to reverse cushings disease in women?
    6 years ago
  • CONRAD
    What is cushing disease?
    5 years ago
  • rosa rumble
    Why klinefelter so tall?
    4 years ago

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