Near-miss apparent SIDS from adrenal crisis

Gassner, Heidi L.; Toppari, Jorma; González, Sofı́a Quinteiro; Miller, Walter L.

doi:10.1016/j.jpeds.2004.04.052

Cited by 40 publications

(24 citation statements)

References 36 publications

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“…In addition, genetically male (XY) fetuses with LCAH have phenotypically female external genitalia due to the absence of in utero T production from lack of steroidogenesis in the developing testes (20, 83). The condition is lethal unless promptly recognized at birth and treated with corticosteroids (52, 63, 83). Affected fetuses have decreased adrenal C 19 steroids (including 16αDHEAS) that normally enter the maternal circulation and act as precursors for placental conversion to estriol (134).…”

Section: C19 Steroidogenic Pathwaysmentioning

confidence: 99%

Adrenal Androgens and Androgen Precursors—Definition, Synthesis, Regulation and Physiologic Actions

Turcu

Smith

Auchus

et al. 2014

Comprehensive Physiology

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The human adrenal produces more 19 carbon (C19) steroids, by mass, than either glucocorticoids or mineralocorticoids. However, the mechanisms regulating adrenal C19 steroid biosynthesis continue to represent one of the most intriguing mysteries of endocrine physiology. This review will discuss the C19 steroids produced in the human adrenal and the features within the adrenal that allow production of these steroids. Finally, we consider the effects of these steroids in normal physiology and disorders of adrenal C19 steroid excess.

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Section: C19 Steroidogenic Pathwaysmentioning

confidence: 99%

Adrenal Androgens and Androgen Precursors—Definition, Synthesis, Regulation and Physiologic Actions

Turcu

Smith

Auchus

et al. 2014

Comprehensive Physiology

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“…Adrenal insufficiency may result from primary adrenal failure or secondary disease to impairment of the hypothalamic−pituitary−adrenal axis (HPA) (26) and is life−threatening (27, 28). Although Addison in 1855 described tuberculous destruction of the whole adrenal glands, today autoimmune adrenalitis which spares the adrenal medulla is more common.…”

Section: Adrenal Cortical Insufficiencymentioning

confidence: 99%

Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action

Honour¹

2009

JCRPE

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Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, transcription factors and signaling systems that are involved in the process. Analyses of mutations are available as a diagnostic service for only a few of these genes although research laboratories may be able to provide a service. Both biochemical and genetic research have brought to light new disorders. Some genes for transcription factors involved in the development of the endocrine organs have also been identified and patients with defects in these processes have been found. This paper will review general aspects of adrenal disorders with emphasis on clinical and laboratory findings. As with all endocrine investigations there are few single measurements that provide a definitive answer to a diagnosis. Timing of samples in relation to age, gender and time of day needs to be considered.Conflict of interest:None declared.

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“…Similarly, salt-losing congenital adrenal hyperplasia, resulting in adrenal crisis and cardiovascular collapse in infants, typically presents within the first two weeks of life. However a recent report has shown that this can also occur relatively late, outside the usually expected time frame, in 6-8 month old children as a result of defects in steroidogenic acute regulatory protein (StAR) function, which is apparently much slower to express (Gassner et al, 2004). Gassner et al (2004) reported that two out of the three patients studied had mutations in the StAR gene, and no mutations were found in a third suggesting a 'novel disease' and as no mutation was found, transient environmental or chemical factors may be implicated.…”

Section: Human Adrenal Dysfunctionmentioning

confidence: 99%

Adrenal toxicology: a strategy for assessment of functional toxicity to the adrenal cortex and steroidogenesis

Harvey

Everett

Springall

2007

J of Applied Toxicology

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The adrenal is the most common toxicological target organ in the endocrine system in vivo and yet it is neglected in regulatory endocrine disruption screening and testing. There has been a recent marked increase in interest in adrenal toxicity, but there are no standardised approaches for assessment. Consequently, a strategy is proposed to evaluate adrenocortical toxicity. Human adrenal conditions are reviewed and adrenocortical suppression, known to have been iatrogenically induced leading to Addisonian crisis and death, is identified as the toxicological hazard of most concern. The consequences of inhibition of key steroidogenic enzymes and the possible toxicological modulation of other adrenal conditions are also highlighted. The proposed strategy involves an in vivo rodent adrenal competency test based on ACTH challenge to specifically examine adrenocortical suppression. The H295R human adrenocortical carcinoma cell line is also proposed to identify molecular targets, and is useful for measuring steroids, enzymes or gene expression. Hypothalamo-pituitary-adrenal endocrinology relevant to rodent and human toxicology is reviewed (with an emphasis on multi-endocrine axis effects on the adrenal and also how the adrenal affects a variety of other hormones) and the endocrinology of the H295R cell line is also described. Chemicals known to induce adrenocortical toxicity are reviewed and over 60 examples of compounds and their confirmed steroidogenic targets are presented, with much of this work published very recently using H295R cell systems. In proposing a strategy for adrenocortical toxicity assessment, the outlined techniques will provide hazard assessment data but it will be regulatory agencies that must consider the significance of such data in risk extrapolation models. The cases of etomindate and aminoglutethimide induced adrenal suppression are clearly documented examples of iatrogenic adrenal toxicity in humans. Environmentally, sentinel species, such as fish, have also shown evidence of adrenal endocrine disruption attributed to exposure to chemicals. The extent of human sub-clinical adrenal effects from environmental chemical exposures is unknown, and the extent to which environmental chemicals may act as a contributory factor to human adrenal conditions following chronic low-level exposures will remain unknown unless purposefully studied.

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Near-miss apparent SIDS from adrenal crisis

Cited by 40 publications

References 36 publications

Adrenal Androgens and Androgen Precursors—Definition, Synthesis, Regulation and Physiologic Actions

Adrenal Androgens and Androgen Precursors—Definition, Synthesis, Regulation and Physiologic Actions

Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action

Adrenal toxicology: a strategy for assessment of functional toxicity to the adrenal cortex and steroidogenesis

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