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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Uniparental disomy (UPD) is the inheritance of a chromosome pair from one parent and is increasingly recognized as a cause of abnormal phenotypes either due to imprinted genes or, in the case of isodisomy, to homozygosity of recessive alleles. Maternal uniparental disomy for chromosome 14 (matUPD[14]) may cause a characteristic phenotype including precocious puberty. Central precocious puberty (CPP) was diagnosed in a 6-year-old girl with some dysmorphic features, truncal obesity, small hands, and small feet. Cytogenetic analysis of her peripheral blood demonstrated chromosomal rearrangement: Robertsonian translocation 45, XX, der(13;14)(q10;q10). MatUPD(14) was demonstrated in the patient by haplotype analysis of chromosome 14, showing that the CPP is one of the features caused by matUPD(14). The CPP was successfully treated with higher dosage of long-acting gonadotropin releasing hormone (GnRH) analogue, Leuprolide, 90 microg/kg/month. This is the first report that describes GnRH analogue treatment for CPP associated with matUPD(14), suggesting that the GnRH analogue treatment is appropriate even for such a specific type of CPP.
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PMID:Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14. 1627 4

Growth in precocious puberty is a subject of concern to families and clinicians alike. The definition of precocious puberty and the role of obesity in the age of onset have also been areas of debate since the Lawson Wilkins Society recommended a lowering of the age of onset of precocious puberty in US girls. An understanding of growth patterns in normal children with earlier or later onset of puberty and the variable rate of progression between individuals with central precocious puberty as well as the imprecision in available height prediction methods are important in assessing height outcomes in this condition. In the absence of randomised controlled trials in this area, only qualified conclusions about the effectiveness of interventions can be drawn. In general, it appears that height outcome is not compromised in untreated slowly progressive variants of central precocious puberty. In rapidly progressing central precocious puberty in girls, gonadotrophin releasing hormone agonists (GnRH agonists) appear to increase final height by about 5 cm in girls treated before the age of eight, but there is no height benefit in those treated after eight years. Scanly data is available to assess treatment effects in boys. GnRH agonists appear to be relatively safe. The decision to treat central precocious puberty should take into account rate of progression of pubertal changes as well as biochemical markers and may need to address other factors (for example psychosocial and behavioural issues) as well as height outcome.
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PMID:Growth in precocious puberty. 1644 68

Radiotherapy may result in endocrine abnormalities, osteoporosis, obesity and neurological sequelae in patients treated for cancer. In the hypothalamo-pituitary area, GH deficiency is the most frequent complication. The frequency, delay of appearance and severity of GH deficiency depend most on the dose delivered during cranial irradiation but variables as age at treatment and fractionation schedule may play an important role as well. Other hypothalamo-pituitary dysfunctions are also dose-dependent. Low dose cranial irradiation may induce precocious or early puberty, while high doses are related to gonadotropin deficiency. Endocrine complications due to extracranial irradiation such as gonadal or thyroid abnormalities are described. In spite of normal GH secretion, linear growth may be impaired by bone lesions secondary to craniospinal or total body irradiation. Results on final height have been optimized by better indicators of GH therapy associated with adequate treatment of early or precocious puberty. The purpose of this review is to explore the late endocrine sequelae of radiotherapy.
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PMID:[Endocrine sequelae after radiotherapy in childhood and adolescence]. 1644 67

In children, narcolepsy may be the symptom of a brain lesion or genetic disease. The authors report two cases with severe narcolepsy-cataplexy emerging in childhood in close temporal association with obesity and precocious puberty.
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PMID:Narcolepsy-cataplexy associated with precocious puberty. 1671 24

Maternal uniparental disomy for chromosome 14 [upd(14)mat] is associated with a characteristic phenotype including pre- and postnatal growth retardation, muscular hypotonia, feeding problems, motor delay, small hands and feet, precocious puberty and truncal obesity. Patients with upd(14)mat show features overlapping with Prader-Willi syndrome (PWS) and are probably underdiagnosed. Maternal upd(14) is frequently described in carriers of a Robertsonian translocation involving chromosome 14, but is also found in patients with a normal karyotype. Based on the above mentioned criteria we have identified six patients with upd(14)mat including two patients with a normal karyotype, one patient with a de novo Robertsonian translocation (14;21), one patient with a familial Robertsonian translocation (13;14) and two patients with a marker chromosome. In addition, we analyzed a cohort of 33 patients with low birth weight, feeding difficulties and consecutive obesity in whom PWS had been excluded by methylation analysis of SNRPN. In four of these patients (12%) we detected upd(14)mat. For rapid testing of upd(14)mat we analyzed the methylation status of the imprinted MEG3 locus. In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity.
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PMID:Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. 1690 36

Bardet-Biedl Syndrome (BBS) is a multisystemic disorder diagnosed on the basis of a combination of primary and secondary clinical features that include retinal dystrophy, obesity, polydactyly, cognitive dysfunction, and renal malformations. We report a unique case of BBS in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease. Further evaluation revealed a history of precocious puberty, which is antithetical to the common manifestations of BBS, while neuroimaging was suggestive of periventricular leukomalacia and neuro-electrophysiologic studies revealed diffuse cerebral disturbance, which may contribute to her neurological abnormalities. The patient was also diagnosed with hydrometrocolpos, a finding typical of McKusick-Kaufman Syndrome (MKKS) but infrequent in other disorders. This observation, together with recent findings in some mouse models of BBS, raises the question of whether hydrometrocolpos should be considered as an additional diagnostic criterion for BBS to be used in females in parallel to the criterion of hypogonadism in males, thereby improving diagnostic sensitivity.
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PMID:Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos? 1755 52

Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, hyperphagia, childhood obesity at an early age, short stature, varying degrees of mental deficiency, and hypogonadism. In PWS, puberty is usually delayed and fails to complete, with most females never having regular menstrual cycles. We report a female patient with uniparental disomy, who experienced precocious puberty with menarche at age 8 years. The patient was treated with luteinizing hormone releasing hormone (LHRH) analog, which suppressed pubertal development. From our search of the literature this is the first application of LHRH analog to a female PWS patient for precocious puberty. Use of LHRH analog along with recombinant human growth hormone (rhGH) permitted stature closer to target height. The clinical course of this patient with PWS underscores the need for individualized treatment.
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PMID:Treatment of precocious puberty in a female with Prader-Willi syndrome. 1865 33

Puberty is a period in a life of a child when sex characteristics occur and growth velocity accelerates. According to adopted norms, the occurrence of signs of puberty before the age of 8 is regarded as precocious. This article focused on early pubertal development, as well as increased incidence of sexual precocity, in American girls and girls who had been adopted from developing countries into Western European countries. Environmental and individual conditions that influence normal and precocious puberty have been discussed. On analysis of professional literature, no alarming advancement in timing of puberty in Polish girls was ascertained. However, taking into consideration certain threats resulting from premature puberty (early initiation of sexual life, increased risk of sexually transmitted infections, early teenage pregnancies, breast cancer, obesity with all its consequences in adulthood), it is necessary to continuously monitor this occurrence, with special attention paid to the factors which may accelerate it.
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PMID:[Individual and environmental conditions influencing puberty in girls]. 1905 25

High rates of overweight and obesity even in very young children argue the case for strategies to prevent overweight from very young ages. Historical studies, prospective birth cohorts, and more recently genetic studies all indicate that the rapid weight gain trajectory to later obesity starts in the first months of life, even from birth. Early puberty and age at menarche are consequences of rapid infant weight gain and childhood overweight, and in turn these adolescent traits are predictive for obesity, diabetes, hypertension and cardiovascular disease events in later life. Understanding of the nutritional, parental and wider determinants of rapid infant weight gain are informing the development of obesity prevention strategies starting in early life. Such strategies could be further refined by future studies that address the specific regulation of infant adiposity, and also by studies that explore whether these life-course trajectories are modifiable during adolescence.
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PMID:Early determinants of obesity. 2055 68

Hypogonadism occurs commonly in men with type 2 diabetes (T2DM) and severe obesity. Current evidence points to a decreased secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamus and thereby decreased secretion of gonadotropins from the pituitary gland as a central feature of the pathophysiology in these men. Hyperglycaemia, inflammation, leptin and oestrogen-related feedback have been proposed to make aetiological contributions to the hypogonadotropic hypogonadism of T2DM. However, the neuroendocrine signals that link these factors with modulation of GnRH neurons have yet to be identified. Kisspeptins play a central role in the modulation of GnRH secretion and, thus, downstream regulation of gonadotropins and testosterone secretion in men. Inactivating mutations of the kisspeptin receptor have been shown to cause hypogonadotropic hypogonadism in man, whilst an activating mutation is associated with precocious puberty. Data from studies in experimental animals link kisspeptin expression with individual factors known to regulate GnRH secretion, including hyperglycaemia, inflammation, leptin and oestrogen. We therefore hypothesise that decreased endogenous kisspeptin secretion is the common central pathway that links metabolic and endocrine factors in the pathology of testosterone deficiency seen in men with obesity and T2DM. We propose that the kisspeptin system plays a central role in integrating a range of metabolic inputs, thus constituting the link between energy status with the hypothalamic-pituitary-gonadal axis, and put forward potential clinical studies to test the hypothesis.
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PMID:Hypothesis: kisspeptin mediates male hypogonadism in obesity and type 2 diabetes. 2062 62


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