High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome

Wijngaarden, Roderick F. A. de Lind van; Otten, Barto J.; Festen, Dederieke; Joosten, Koen; Jong, Frank H. de; Sweep, Fred C.G.J.; Hokken-Koelega, Anita C S

doi:10.1210/jc.2007-2294

Cited by 134 publications

(115 citation statements)

References 31 publications

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“…noted in 60% of children with PWS in one study, suggesting that this may be the cause of the high incidence of sudden death in this population. 59 It is known that introducing GH therapy can precipitate adrenal crisis in individuals with incipient adrenal insufficiency by accelerating the peripheral metabolism of cortisol, which may explain the correlation between the incidence of sudden death at the beginning of GH treatment and CAI in individuals with PWS. 60 However, two subsequent studies have found normal cortisol responses to low-and high-dose synacthen testing, as well as to insulin tolerance testing, 61,62 so whether CAI is a true issue for individuals with PWS remains uncertain at this time and there is no consensus among endocrinologists as to whether evaluation for CAI should be performed on every patient with PWS or just those with symptoms consistent with adrenal insufficiency.…”

Section: Clinical Diagnosis Consensus Diagnostic Criteriamentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,135

1,193

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Section: Clinical Diagnosis Consensus Diagnostic Criteriamentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,135

1,193

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“…For instance in Prader-Willi syndrome, the insufficient secretion of GH, POMC, and gonadotropins are presumed to be the result of hypothalamic dysfunction (20)(21)(22).…”

Section: Pathophysiology Of Hypogonadotropic Hypogonadismmentioning

confidence: 99%

Inducing puberty

Delemarre

Felius

Waal

2008

European Journal of Endocrinology

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Puberty is the result of increasing pulsatile secretion of the hypothalamic gonadotropin releasing hormone (GnRH), which stimulates the release of gonadotropins and in turn gonadal activity.In general in females, development of secondary sex characteristics due to the activity of the gonadal axis, i.e., the growth of breasts, is the result of exposure to estrogens, while in boys testicular growth is dependent on gonadotropins and virilization on androgens.Hypogonadotropic hypogonadism is a rare disease. More common is the clinical picture of delayed puberty, often associated with a delay of growth and more often familial occurring. Especially, boys are referred because of the delay of growth and puberty. A short course (3-6 months) of androgens may help these boys to overcome the psychosocial repercussions, and during this period an increase in the velocity of height growth and some virilization will occur.Hypogonadotropic hypogonadism may present in a congenital form caused by developmental disorders, some of which are related to a genetic disorder, or secondary to hypothalamic-pituitary dysfunction due to, among others, a cerebral tumor.In hypogonadotropic hypogonadism puberty can be initiated by the use of pulsatile GnRH, gonadotropins, and sex steroids. Sex steroids will induce development of the secondary sex characteristics alone, while combined administration of gonadotropins and GnRH may induce gonadal development including fertility.European Journal of Endocrinology 159 S9-S15

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“…33 Recently, it was found that central adrenal insufficiency (CAI) was present in 60% of tested individuals with PWS and the authors suggest that CAI during times of stress could explain many of the sudden and unexplained deaths in PWS. 34 …”

mentioning

confidence: 99%

Prader–Willi syndrome

2008

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In association withPrader-Willi syndrome Prader -Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2 -q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

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High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome

Cited by 134 publications

References 31 publications

Prader-Willi syndrome

Prader-Willi syndrome

Inducing puberty

Prader–Willi syndrome

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