Leprechaunism (Donohue'S Syndrome) - Two Autopsy Cases ... Academia.edu - Share research Described by Patterson and Watkins, 1962. An accelerated fasting state results in muscle wasting, decreased . Donohue syndrome | Encyclopedia.com Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Development of Endometrial Carcinoma in a Patient with ... W. L. Donohue first described this rare syndrome in 1948. Leprechaunism (Donohue syndrome): A case bearing novel ... Leprechaunism leprechaunismo - Wiktionary OMIM Entry - 169170 - PATTERSON PSEUDOLEPRECHAUNISM SYNDROME The patient is a Japanese boy with acanthosis nigricans, lack of leprechaunism Donohue syndrome, Donohue-Uchida syndrome, dysendocrinism An AR polydysmorphic complex with parental consanguinity, which is more common in ♀-↑ ♂ fetal wastage in utero and characterized by a coarse gnome-like face with a saddle nose, broad mouth, large, low-set ears, hirsutism, cutis laxa, atrophy of subcutaneous fat, dwarfism, extreme wasting, mental retardation . Fourteen cases previously published in the literature are reviewed. The synonym for this syndrome, leprechaunism, is derived from "leprechaun," the name of a mythical little hairy elf originating from the Irish folklore. Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. Fernhoff (2004) noted that Donohue syndrome is a more appropriate designation for this disorder because 'leprechaunism' may be viewed as pejorative by families. Insulin-like growth factor I (IGF-I), a 70-amino acid polypeptide with extensive, Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. Affected individuals have an insulin receptor with greatly impaired functionality.The name leprechaunism has . Leprechaunism is an outdated name for a rare medical condition more properly called Donohue syndrome. Leprechaunism (Donohue syndrome) is a recessively. Leprechaunism or Donohue Syndrome is an. from a constellation of mutations of Insulin receptor. Koklu E, Ariguloglu EA, Koklu S. J Pediatr Endocrinol Metab, 27(3-4):207-208, 01 Mar 2014 Cited by: 1 article | PMID: 24127532 [Donohue syndrome or leprechaunism]. Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder. Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features.We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing . Severe insulin resistance and an irregular enlargement of the genitalia are also overlapping symptoms. Leprechaunism was the euphemistic name used to describe the "elfinlike" facies and poor growth characteristic of the syndrome. Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. Donohue syndrome is an autosomal recessive disease corresponding . Leprechaunism is a rare autosomal recessive disease that is characterized by severe insulin resistance (1,2,3). Most of the clinical features are similar in the two conditions. The disease is caused by a mutation in the INSR gene, which contains the genetic information for the formation of insulin receptors. Patterson and Watkins (1962) described a 10-month-old boy who they thought had leprechaunism (Donohue syndrome; 246200).Discordant features, however, were normal birth weight (rather than the usual severe intrauterine growth retardation) and marked cutis gyrata of hands and feet as well as a generalized skeletal disorder. Disease definition Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation. Rabson-Mendenhall. The meaning of Donohue syndrome is a rare hereditary disorder of extreme insulin resistance that is characterized especially by intrauterine and postnatal growth retardation, skin abnormalities, hirsutism, emaciation, widely spaced eyes, thick lips, low-set ears, and enlarged genitalia and is usually fatal during early infancy : leprechaunism. Donohue syndrome (OMIM 246200) is a genetic autosomal recessive disorder which results from the presence of homozygous or compound heterozygous mutations in the INSR (19p13.3-p13.2), that produce a total or near-total absence of functional insulin receptors. Marked hypertrichosis, characteristic facies, loss of subcutaneous tissue and low birth weight are characteristic of this morbid condition. Donohue syndrome or leprechaunism (Online Mendelian Inheritance of Man # 246200) is a rare, autosomal, recessively inherited disease with a prevalence of less than one in a million births. Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. disorder probably transmitted in an autosomic She is 120 cm tall and weighs 20 kg with a recessive pattern [1,2] characterized by intrauter- reduced muscle mass and loose and wrinkled skin ine and . Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder.Leprechaunism derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the affected individuals. - "Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene." [citation needed] Leprechaunism is technically a severe form of diabetes. We report a case of a patient whose diagnosis was made at birth in gynecology-obstetrics "C" University Hospital Ibn Rushd Casablanca. ABSTRACT: Leprechaunism (Donohue syndrome) is an autosomal recessive disorder characterized by hyperglycemia, extreme insulin resistance, dysmorphic features, failure to thrive, and early death. Rare and poorly defined syndrome that seems to be inherited. ,,, Leprechaunism (Donohue syndrome) and RMS both are autosomal recessive conditions with abnormal alleles for insulin receptors. Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. Patients have an elfin or gnome-like face with microcephaly, protuberant and low-set ears, large, wide-set eyes, high arched palate, thickened lips, and severely diminished subcutaneous fat . Those affected with the disease are often characterized by elfin features, which are smaller than usual. Leprechaunism derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the affected individuals. Am J Clin Path 45: 614, 1966. It is characterized by the patient having bizarre look, masqueraded as Leprechaunism . We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR. Case Report: Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, and thick lips. gene, causing complete resistance to insulin . The 4 previously described cases had been female. Donohue syndrome General Discussion Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system). gene, causing complete resistance to insulin . Patterson pseudoleprechaunism syndrome is an extremely rare genetic disorder characterized by a normal birth weight, bronze discoloration of the skin (hyperpigmentation), loose skin on the hands and feet (cutis gyrata), and malformation (dysplasia) of the skeleton. from a constellation of mutations of Insulin receptor. When these disorders were first described, it became clear that extreme endogenous or exogenous hyperinsulinemia was a potent drive for the ovary to increase testosterone production and become polycystic. It was first described as dysendocrinism by Dono-huein 1948.1 Later Donohueand Uchida2 reported two sisters under the term leprechaunism. Images Presentation The clinical features associated with Donohue syndrome are mostly present since birth, although they may show considerable individual variation [1] [2]. "Preimplantation genetic diagnosis for Donohue syndrome (Leprechaunism): case report" Find papers alphabetically by title. History Patterson and Watkins (1962) described a probable case in a male. exceedingly rare lethal familial condition resulting. another pediatric syndrome, similar to Donohue. "Donohue Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity. Background: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. PubMed CAS Google Scholar 9. Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. This syndrome affects the appearance of the person and results in pointed ears, small stature and a short lifespan. The case arose as a result of a consanguineous marriage. INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). It is also known as Donohue syndrome Leprechaunism. We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR. "Donohue Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity. prenatal and postnatal growth retardation, ovarian. Donohue syndrome Definition Donohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene . Donohue syndrome is a very rare, as well as severe genetic disorder. This disease is caused by a defective insulin receptor and features abnormal glucose metabolism and retarded intrauterine and postnatal growth (1,2,3,4). Prominent genitalia, rugation of the labioscrotal folds, polycystic ovaries, and precocious puberty are associated with leprechaunism,1 and these characteristics indicate possible pathology in the hypothalamic-pituitary-gonadal axis. Background: Donohue syndrome (DS), also known as Leprechaunism, describes a rare form of congenital insulin resistance associated with refractory hyperglycemia, hyperinsulinism and severe, characteristic musculoskeletal deformities and facial dysmorphia. 227 Patients have characteristic facies with large ears and micrognathia. Ferguson-Smith MA, Hamilton W, Ferguson IC: An abnormal metacentric chromosome in an infant with leprechaunism: Ann Genet 11: 195, 1968. It is caused by a genetic defect in insulinreceptors that affect growth. The thickened skin appears too large for the body and is folded at . Rabson-Mendenhall syndrome is commonly associated with Donohue syndrome, also known as "Leprechaunism". We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR. [1] Leprechaunism derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Table 2.—Summaryof Findings in PatientWith Donohue Syndrome Characteristic 13ReportedCases No. Ferguson-Smith MA, Hamilton W, Ferguson IC: An abnormal metacentric chromosome in an infant with leprechaunism: Ann Genet 11: 195, 1968. The physical features most often associated with this condition include . Leprechaunism or Donohue Syndrome is an. Leprechaunism derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the affected individuals. The disease is caused by a mutation in the INSR gene, which contains the genetic information for the formation of insulin receptors. Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. Rogers DK: Leprechaunism (Donohue's syndrome). leprechaunism Donohue syndrome, Donohue-Uchida syndrome, dysendocrinism An AR polydysmorphic complex with parental consanguinity, which is more common in ♀-↑ ♂ fetal wastage in utero and characterized by a coarse gnome-like face with a saddle nose, broad mouth, large, low-set ears, hirsutism, cutis laxa, atrophy of subcutaneous fat, dwarfism, extreme wasting, mental retardation . (Case Report, Case study) by "Turkish Pediatrics Archive"; Health, general Adipose tissue Analysis Adipose tissues Care and treatment Case studies Diagnosis Genes Genetic research Hyperglycemia Insulin Insulin resistance Metformin Monkeys Affected infants may have distinctive abnormalities of the head and face (craniofacial) region, low birth weight, skin abnormalities and abnormal . exceedingly rare lethal familial condition resulting. Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder. The pa-tients were the product of a consanguineous mar-riage. The neonate shows a broad nose, low set ears and hypertrichosis of the forehead and cheeks. Synonym: sindrome di Donohue. Clinical Features: Donohue and Donohue and Uchida were the first to describe this rare syndrome featuring dysmorphic facies, failure to thrive, hirsutism, and multiple endocrine abnormalities. Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. B: Light micrographs of Periodic acid-Schiff (PAS) staining of liver tissues from the patient. This infant with leprechaunism (Donohue's syndrome) demonstrates the very severe intrauterine growth retardation. Also known as Leprechaunism, the disorder is an autosomal recessive genetic disorder. It is characterized by intra-uterine and postnatal growth retardation, decreased subcutaneous tissue and muscle mass, a characteristic facies, and tissue resistance to insulin. The synonym for this syndrome, leprechaunism, is derived from "leprechaun," the name of a mythical little hairy elf originating from the Irish folklore. Free Online Library: A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene. Leprechaunism / Donohue syndrome - Animation Watch later Watch on A few patients with homozygous mutations in the 'INSR' gene have been . Clinical features are prenatal and postnatal growth retardation, elfin face, large and low-set ears, depressed nasal bridge, thick lips, large tongue . LEPRECHAUNISM (DONOHUE'S SYNDROME) - TWO AUTOPSY CASES LEPRECHAUNISM (DONOHUE'S SYNDROME) - TWO AUTOPSY CASES Uematsu, Kunio; Morimura, Yoshiyuki; Matsumoto, Keishi; Koto, Kiyoshi; Tsujino, Giichi; Minagawa, Junnosuke; Miyaji, Toru 1974-03-01 00:00:00 ** Childrenâ s Medical Center *** Itami City Hospital * Department of Pathology, Osaka University Medical School of Osaka City (Received on . We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR.The patient is a Japanese boy with acanthosis nigricans, lack of subcutaneous fat, hirsutism, thick lips, gum hypertrophy . of Cases % Patient Currently Described History Consanguinityof parents 38 Premature birth 30 Birth weightbelow2,250gm 10 76 Sex 8 F, 5 M Feedingproblems 69 Nasogastrictubefeeding 46 Poorweightgain 12 92 Earlydeath 53 Physicalfindings Prognosis of DS is poor and most individuals die early in infancy. A possible case with emphasis on changes in the adenohypophysis. ism n. leprecaunismo, condición hereditaria con características de enanismo. Description. Eur J Pediatr (1997) 156: 253 - 255 Springer-Verlag 1997 CLASSICS IN PEDIATRICS G. Kosztola´nyi Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding Introduction First phase: clinical assessment of the phenotype Leprechaunism (Donohue syndrome) is a rare auto- In 1948, William Leslie . Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. Donohue syndrome Disease name: Donohue syndrome ICD 10: E34.8 Synonyms: Leprechaunism Disease summary: Donohue syndrome is a rare autosomal recessive disorder with an incidence of 1 in 4 million live births [1,2] caused by mutations of the insulin receptor gene on chromosome 19p13 [3]. The meaning of Donohue syndrome is a rare hereditary disorder of extreme insulin resistance that is characterized especially by intrauterine and postnatal growth retardation, skin abnormalities, hirsutism, emaciation, widely spaced eyes, thick lips, low-set ears, and enlarged genitalia and is usually fatal during early infancy : leprechaunism. Noun. PubMed CAS Google Scholar 9. Preimplantation genetic diagnosis for chromosome rearrangements - one blastomere biopsy versus two blastomere biopsy Thecondition nowknownas leprechaunism, or the Donohue syndrome, has had a chequered history. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Prognosis of DS is poor and most individuals die early in infancy. Many of the distinguishing features of leprechaunism (Donohue's syndrome) suggest abnormalities of endocrine regulation. Am J Clin Path 45: 614, 1966. Description Donohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in infants. This syndrome was first described by Donohue (1948) and Donohue and Uchida, (1954). 1 A:Photograph of the patient with leprechaunism, at 8 days of age. The photo is approved by his parents in written form. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. Fig. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance ().Other syndromic forms of insulin resistance include Rabson-Mendenhall syndrome, type A and B insulin resistance, lipodystrophies, and HAIR-AN syndrome ().Diagnosis is made on clinical (), biochemical (fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia), and . leprechaunismo m ( plural leprechaunismi ) ( medical genetics, usually uncountable) leprechaunism, Donohue syndrome. A possible case with emphasis on changes in the adenohypophysis. Patients have an elfin or gnome-like face with microcephaly, protuberant and low-set ears, large, wide-set eyes, high arched palate, thickened lips, and severely diminished subcutaneous fat . Leprechaunism was the euphemistic name used to describe the "elfinlike" facies and poor growth characteristic of the syndrome. Keywords: Leprechaunism; Inherited disorder; Insulin receptor L Introduction Leprechaunism (Donohue's syndrome) is a rare disorder probably transmitted in an autosomic recessive pattern [1,2] characterized by intrauterine and post natal growth retardation, hyperinsulinemia, glucidic homeostasis alterations and various hormonal changes. Eur J Pediatr (1997) 156: 253 - 255 Springer-Verlag 1997 CLASSICS IN PEDIATRICS G. Kosztola´nyi Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding Introduction First phase: clinical assessment of the phenotype Leprechaunism (Donohue syndrome) is a rare auto- In 1948, William Leslie . Leprechaunism (Donohue syndrome) is a recessively inherited syndrome of insulin resistance with severe prenatal and postnatal growth retardation, ovarian hyperstimulation, acanthosis nigricans and abnormal facial features, as described above. Leprechaunism (Donohue syndrome) a series of mutations that manifest in infants w/ distinctive craniofacial features, low birth weight, skin abnormalities, and enlargement of the breast and clitoris in females and the penis in males. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. Hyperandrogenism and polycystic ovarian syndrome are more striking features of the type A and RM syndromes and of leprechaunism. Leprechaunism or Donohue's syndrome is a rare condition occurring in less than one in a million births. Leprechaun-Verona 1 is the name given to the patient by the authors who first Leprechaunism (Donohue's syndrome) is a rare presented the case [3]. inherited syndrome of insulin resistance with severe. An extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism). Leprechaunism (Donohue syndrome): report of a case in a newborn. INTRODUCTION:Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. To evaluate renal structure in a child with Donohue syndrome (leprechaunism), who at 10 yr of age was noted to have hypertension, microalbuminuria, a Donohue syndrome is an autosomal recessive genetic disorder. Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies. There is intrauterine growth retardation, hirsutism, an aged face with thickened lips and prominent ears, failure to thrive and enlargement of the breasts and genitalia. 2-4 Article Leprechaunism (Donohue syndrome): report of a case in a newborn was published on 01 Mar 2014 in the journal Journal of Pediatric Endocrinology and Metabolism (Volume 27, Issue 3-4). congenital insulin resistance associated with refractory hyperglycemia, hyperinsulinism and severe, characteristic musculoskeletal deformities and facial dysmorphia. Donohue syndrome (DS), also known as Leprechaunism, describes a rare form of . The infant had a birth weight of 750 g at a gestational age of 37 weeks. Planchenault D, . The affected individuals also have a greatly impaired functionality in their insulin receptor. Thechildren's growthappearedtohavehalted at about the . At age 3 weeks the weight was 780 g. Note the marked hirsutism, sunken cheeks, pointed chin, large mouth, thick lips, wide nostrils, large eyes, large ears . Leprechaunism (Donohue's syndrome) was first described in 1954 in two siblings with intrauterine and postnatal growth retardation, sparse subcutaneous fat, acanthosis nigricans, and early death. An infant had the classical features of leprechaunism. The disease is caused by a mutation in the INSR gene, which contains the genetic information for the formation of insulin . To our knowledge, this is the first patient with leprechaunism in Israel. Both diseases are autosomal recessive disorders caused by mutations on chromosome 19. Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. Objective. Leprechaunism or Donohue syndrome is a very rare malformation (less than one case per million), caused by a genetic insulin resistance. 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