The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
Open accessAbstract
BACKGROUND: Congenital lipoid adrenal hyperplasia results in severe impairment of steroid biosynthesis in the adrenal glands and gonads that is manifested both in utero and postnatally. We recently found mutations in the gene for the steroidogenic acute regulatory protein in four patients with this syndrome, but it was not clear whether all patients have such mutations or why there is substantial clinical variation in these patients. METHODS: We directly sequenced the gene for steroidogenic acute regulatory protein in 15 patients with congenital lipoid adrenal hyperplasia from 10 countries. Identified mutations were confirmed and recreated in expression vectors, transfected into cultured cells, and assayed for the presence and activity of steroidogenic acute regulatory protein. RESULTS: Fifteen different mutations in the gene for steroidogenic acute regulatory protein were found in 14 patients; the mutation Gln258Stop was found in 80 percent of affected alleles from Japanese and Korean patients, and the mutation Arg182Leu was found in 78 percent of affected alleles from Palestinian patients. We developed diagnostic tests for these and eight other mutations. Thirteen of the 15 mutations were in exons 5, 6, or 7, and all rendered the steroidogenic acute regulatory protein inactive in functional assays. Some mutants with amino acid replacements were capable of normal mitochondrial processing, indicating that the activity of steroidogenic acute regulatory protein is not associated with its translocation into mitochondria. Steroidogenic cells lacking the protein retained low levels of steroidogenesis. This explains the secretion of some steroid hormones by the ovaries after puberty before affected cells accumulate large amounts of cholesterol esters. CONCLUSIONS: The congenital lipoid adrenal hyperplasia phenotype is the result of two separate events, an initial genetic loss of steroidogenesis that is dependent on steroidogenic acute regulatory protein and a subsequent loss of steroidogenesis that is independent of the protein due to cellular damage from accumulated cholesterol esters.
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Infants with untreated lipoid CAH can survive without treatment for several months, whereas patients with other forms of salt wasting CAH do not.
“This, in turn, explains why infants with untreated lipoid CAH can survive without treatment for several months2,4,10), whereas patients with other forms of salt wasting CAH do not.”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The Discussion (page unavailable) reports that four infants with lipoid CAH survived at least three months without hormone-replacement therapy. The passages found do not establish the claimed contrast with untreated patients who have other salt-wasting forms of CAH. (LLM, conf=0.86)
Experimental — accuracy not yet measuredLipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations.
“Lipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations1,3,4,10,11,13,29,30,31,32).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The Gln258Stop Mutations section says lipoid CAH is less rare in Japan and Korea than in the United States, and the Patients section documents cases from varied backgrounds. The paper also describes Palestinian patients, but the passages do not establish that the disease is common among Palestinian Arabs or has been reported in most ethnic groups. Its 70–80 percent figure concerns mutations among affected patients, not disease prevalence. (LLM, conf=0.85)
Experimental — accuracy not yet measuredLipoid CAH is common in Japan and Korea.
“Lipoid CAH is the most fatal form of CAH and is common in Japan and Korea.”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The Gln258Stop Mutations section says congenital lipoid adrenal hyperplasia is “not so rare” in Japan and Korea as it is in the United States. That supports a relative difference in frequency, but not the unqualified claim that it is common in those countries. No page number is provided in our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe second hit disrupts the low levels of StAR-independent steroidogenesis, leading to undetectable levels of steroid in older children with lipoid CAH.
“This second hit disrupts the low levels of StAR-independent steroidogenesis, leading to undetectable levels of steroid in older children with lipoid CAH4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The Discussion (page unavailable) describes a second hit in which accumulated cholesterol esters damage cells and eventually disrupt StAR-independent basal steroidogenesis. It also says residual adrenal steroidogenesis is ultimately destroyed, but does not establish undetectable steroid levels in older children generally; it describes some ovarian steroid production after puberty. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThese tropic hormones stimulate cellular uptake of LDL-cholesterol and increase production of cholesterol from acetate, resulting in accumulation of cholesterol esters, which finally destroy cells either via physical enlargement with droplets of cholesterol esters or by chemical action of cholesterol oxidation products, or both.
“These tropic hormones stimulate cellular uptake of low density lipoprotein-cholesterol and increase production of cholesterol from acetate, resulting in the accumulation of cholesterol esters, which finally destroy cells either via physical enlargement with droplets of cholesterol esters or by a chemical action of cholesterol oxidation products, or both4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured
Mutations in StAR contribute to congenital adrenal lipoid hyperplasia, a condition characterized by the inability to synthesize steroids, resulting in impaired sexual development and adrenal dysfunction leading to infant death unless treated with glucocorticoid supplementation.
“The necessity of StAR for steroidogenesis derived from work in humans showing that a broad spectrum of mutations in StAR contribute to congenital adrenal lipoid hyperplasia, a condition characterized by the inability to synthesize steroids, resulting in impaired sexual development and adrenal dysfunction leading to infant death unless treated with glucocorticoid supplementation (137).”
From Adrenal Mitochondria and Steroidogenesis: From Individual Proteins to Functional Protein Assemblies (2016) · cites this paper as [137]
The Abstract reports diverse StAR mutations in patients with congenital lipoid adrenal hyperplasia, impaired steroid synthesis, altered sexual development, and potentially fatal adrenal dysfunction. But it also says affected cells retain low levels of steroidogenesis, rather than being wholly unable to synthesize steroids. The clinical description specifies both mineralocorticoid and glucocorticoid replacement for survival, not glucocorticoids alone. (LLM, conf=0.88)
Experimental — accuracy not yet measuredAlthough StAR is required for the acute steroidogenic response, steroidogenesis persists in the absence of StAR at about 14% of the StAR-induced rate, accounting for the steroidogenic capacity of tissues that lack StAR (e.g., the placenta and the brain).
“Although StAR is required for the acute steroidogenic response, steroidogenesis persists in the absence of StAR at about 14% of the StAR-induced rate (67, 75), accounting for the steroidogenic capacity of tissues that lack StAR (e.g., the placenta and the brain).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredThe two-hit model of lipoid CAH proposes that the first hit is the loss of StAR itself, leading to a loss of most but not all steroidogenesis and a compensatory rise in ACTH and LH.
“This observation led to the two-hit model of lipoid CAH (67) (Fig. 5).The first hit is the loss of StAR itself, leading to a loss of most, but not all steroidogenesis, leading to a compensatory rise in ACTH and LH.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The Discussion (page not supplied) describes the first lesion as mutant StAR abolishing StAR-dependent steroidogenic responses while leaving basal, StAR-independent steroidogenesis. The Patients section reports high corticotropin, but the copy does not identify a compensatory rise in LH as part of the first hit; the Discussion mentions hypergonadotropic hypogonadism in the context of progressive ovarian failure. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAlthough net ovarian steroidogenesis is impaired in lipoid CAH, enough estrogen is produced to induce breast development, feminization, monthly estrogen withdrawal, and cyclic vaginal bleeding.
“Although net ovarian steroidogenesis is impaired, enough estrogen is produced to induce breast development (especially in the absence of androgens), feminization, monthly estrogen withdrawal, and cyclic vaginal bleeding (67, 109, 110).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The Discussion (page unavailable) says affected 46,XX females can produce some ovarian estrogen after puberty and that some undergo feminization and vaginal bleeding. It does not specify breast development, monthly estrogen withdrawal, or that the bleeding is cyclic; it describes low-level steroidogenesis associated with anovulatory cycles. (LLM, conf=0.85)
Experimental — accuracy not yet measuredLipoid CAH is relatively common in Japan; about 65-70% of affected Japanese alleles and virtually all affected Korean alleles carry the mutation Q258X.
“Lipoid CAH is relatively common in Japan; about 65-70% of affected Japanese alleles and virtually all affected Korean alleles carry the mutation Q258X (66,67,97,(111)(112)(113);”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The Gln258Stop Mutations section (page unavailable) reports Q258X in four of six unrelated Japanese affected alleles, consistent with about 65–70%, and says lipoid CAH is less rare in Japan and Korea than in the United States. Table 1 lists Korean patients with the mutation, but the paper does not establish that virtually all affected Korean alleles carry it; that extends a finding from the patients studied to the wider population. (LLM, conf=0.83)
Experimental — accuracy not yet measuredIn the absence of StAR, increased intracellular cholesterol accumulates, causing the second hit, which is the loss of all steroidogenic capacity caused by mitochondrial and cellular damage resulting from accumulated cholesterol, cholesterol esters, and their autooxidation products.
“In the absence of StAR, this increased intracellular cholesterol accumulates, causing the second hit, which is the loss of all steroidogenic capacity caused by mitochondrial and cellular damage resulting from the accumulated cholesterol, cholesterol esters, and their autooxidation products (67).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredThe carrier frequency for Q258X in Japan and Korea appears to be about one in 300, so one in every 250,000 to 300,000 newborns is affected, for a total of about 500 patients in Japan and Korea.
“The carrier frequency for this mutation in these countries appears to be about one in 300 (67, 112) so that one in every 250,000 to 300,000 newborns is affected, for a total of about 500 patients in Japan and Korea.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The “Gln258Stop Mutations” section reports that this mutation occurred in affected patients from Japan and Korea, but estimates its carrier rate at about 1 in 200 in Japan—not 1 in 300 in both countries. The section does not give the claimed newborn incidence or estimate of 500 patients. (LLM, conf=0.84)
Experimental — accuracy not yet measuredStAR promotes steroidogenesis by increasing the movement of cholesterol into mitochondria, but in the absence of StAR, steroidogenic cells make steroids at about 14% of the StAR-induced level.
“StAR promotes steroidogenesis by increasing the movement of cholesterol into mitochondria, but in the absence of StAR, steroidogenic cells make steroids at about 14% of the StAR-induced level (66,67,75,104).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The Discussion (Figure 3) says StAR promotes cholesterol movement between mitochondrial membranes and that some steroidogenesis persists without it. Activity of the Mutants reports StAR-independent steroidogenesis at 14% of the StAR-containing level, but that measurement was in engineered COS-1 cells, not steroidogenic cells generally. (LLM, conf=0.86)
Experimental — accuracy not yet measuredEarly in lipoid CAH, steroidogenesis is insufficient, and secretion of ACTH (and LH) increases, stimulating further accumulation of cholesterol esters in lipid droplets.
“Early in lipoid CAH, StARindependent mechanisms still permit some cholesterol to enter the mitochondria; however, steroidogenesis is insufficient, and secretion of ACTH (and LH) increases, stimulating further accumulation of cholesterol esters in lipid droplets.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The Discussion describes an initial loss of StAR-dependent steroidogenesis followed by accumulation of cholesterol esters, and the Patients section reports excessive corticotropin (ACTH) secretion associated with glucocorticoid deficiency. The passages do not establish increased LH secretion or explicitly say that increased ACTH or LH drives the cholesterol-ester accumulation. Page numbers are unavailable in our copy. (LLM, conf=0.85)
Experimental — accuracy not yet measuredMutations in StAR cause congenital lipoid adrenal hyperplasia, in which virtually no steroid hormones are made and 46,XY fetuses are phenotypically female due to impaired testicular steroidogenesis.
“Mutations in StAR cause another rare form of CAH, congenital lipoid adrenal hyperplasia, in which virtually no steroid hormones are made and 46,XY fetuses are phenotypically female due to impaired testicular steroidogenesis (43,44).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [43]
The defect in lipoid CAH is mainly in StAR, which promotes entry of cholesterol into mitochondria.
“The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR)3,4), which promotes entry of cholesterol into mitochondria”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
This enables normal placental steroidogenesis and term gestation and also explains the low, but detectable, levels of steroid hormones seen in the sera of patients with lipoid CAH during the first month of life.
“This enables normal placental steroidogenesis and term gestation and also explains the low, but detectable, levels of steroid hormones seen in the sera of patients with lipoid CAH during the first month of life2,4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Although StAR is essential for an acute and maximal steroidogenic response, there are also low levels of StAR-independent steroidogenesis.
“Although StAR is essential for an acute and maximal steroidogenic response, there are also low levels of StAR-independent steroidogenesis3,4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The first hit is the mutation in the StAR gene, ablating StAR-dependent steroidogenesis but permitting StAR-independent steroidogenesis to persist.
“The first hit is the mutation in the StAR gene, ablating StAR-dependent steroidogenesis but permitting StAR-independent steroidogenesis to persist4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The demonstration of StAR-independent steroidogenesis led to the formulation of the two-hit model of lipoid CAH.
“The demonstration of StAR-independent steroidogenesis led to the formulation of the two-hit model of lipoid CAH4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The incidence of certain mutations is very high in specific ethnic groups.
“The incidence of certain mutations is very high in specific ethnic groups.”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Affected patients typically present with signs of severe adrenal failure in early infancy.
“Affected patients typically present with signs of severe adrenal failure in early infancy”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Most cases of lipoid CAH are caused by recessive mutations in the gene encoding StAR.
“Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Most patients with lipoid CAH have female external genitalia regardless of chromosomal sex.
“Most patients have female external genitalia regardless of chromosomal sex”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Most patients with lipoid CAH have evidence of salt loss in the first year of life, usually within the first 2 months.
“have evidence of salt loss in the first year of life and usually within the first 2 months3,4,10,11,12,13).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
The p.R182L mutation is in Palestinian Arabs.
“the p.R182L mutation in Palestinian Arabs4)”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
Affected infants have low but measurable levels of steroid hormones.
“Affected infants have low but measurable levels of steroid hormones”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
It has been demonstrated that p.Q258X is a null mutation, resulting in elimination of StAR function.
“It has been demonstrated that p.Q258X is a null mutation, resulting in elimination of StAR function3,4).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [4]
When nonsteroidogenic cells are transfected with the P450scc system, they convert cholesterol to pregnenolone at about 14% of the StAR-induced rate.
“Some steroidogenesis is independent of StAR; when nonsteroidogenic cells are transfected with the P450scc system, they convert cholesterol to pregnenolone at about 14% of the StAR-induced rate (66, 67).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Mutations in StAR cause the most common form of lipoid CAH, in which very little steroid is made; targeted disruption of the mouse Star gene causes a similar phenotype.
“Mutations in StAR cause the most common form of lipoid CAH (66, 67), in which very little steroid is made; and targeted disruption of the mouse Star gene causes a similar phenotype (73, 74).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Other genetic clusters of lipoid CAH are found among Palestinian Arabs carrying R182L, in eastern Saudi Arabia carrying R182H, and in parts of Switzerland carrying L260P.
“Other genetic clusters are found among Palestinian Arabs, most of whom carry the mutation R182L (67); in eastern Saudi Arabia, carrying R182H (108); and in parts of Switzerland, carrying the mutation L260P (114).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Numerous mutations in the STAR gene have been found in patients with lipoid CAH.
“Numerous mutations in the STAR gene have been found in patients with lipoid CAH (67, 111).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The identification of disease-causing StAR mutations proved the indispensable role of StAR in adrenal and gonadal (but not placental) steroidogenesis.
“The cloning of StAR permitted its study in patients with lipoid CAH, and the identification of disease-causing StAR mutations proved the indispensable role of StAR in adrenal and gonadal (but not placental) steroidogenesis (66,67,104).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Most patients with lipoid CAH have similar clinical findings: an infant with normal-appearing female genitalia experiences failure to thrive and salt loss in the first weeks of life.
“Most patients with lipoid CAH have had similar clinical findings: an infant with normal-appearing female genitalia experiences failure to thrive and salt loss in the first weeks of life (67,97,111).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
Genetic males with lipoid CAH have female external genitalia.
“Genetic males have female external genitalia and should undergo orchiectomy and be raised as females (67,96,97).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
In the ovary, follicular cells remain unstimulated and undamaged until puberty, when they are recruited at the beginning of each cycle and produce small amounts of estradiol by StAR-independent means.
“In the ovary, follicular cells remain unstimulated and undamaged until puberty, when they are recruited at the beginning of each cycle, and small amounts of estradiol are produced by StAR-independent means (as in panel B), causing partial feminization, anovulatory cycles, infertility, and hypergonadotropic hypogonadism.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
The accumulating lipid droplets engorge and damage the cell through physical displacement and by the action of cholesterol autooxidation products, destroying steroidogenic capacity.
“The accumulating lipid droplets engorge and damage the cell through physical displacement and by the action of cholesterol autooxidation products.Steroidogenic capacity is destroyed, and secretion of tropic hormones continues.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [67]
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Self-citationHuman cytochromes P450 in health and disease
Nebert, D. W., Wikvall, K., & Miller, W. L. (2013) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2012.0431 · Cited by 505 · see citing works
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START: a lipid-binding domain in StAR, HD-ZIP and signalling proteins
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Self-citationRapid regulation of steroidogenesis by mitochondrial protein import
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Progesterone synthesis by the human placenta
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Genetics of congenital adrenal hyperplasia
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Hauet, T., Yao, Z.-X., Bose, H. S., Wall, C. T., Han, Z., Li, W., Hales, D. B., Miller, W. L., Culty, M., & Papadopoulos, V. (2005) · Molecular Endocrinology · doi:10.1210/me.2004-0307 · Cited by 252 · see citing works
Self-citationWatari, H., Arakane, F., Moog-Lutz, C., Kallen, C. B., Tomasetto, C., Gerton, G. L., Rio, M.-C., Baker, M. E., & Strauss, J. F. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.16.8462 · Cited by 247 · see citing works
Self-citationThe active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule
Bose, H. S., Whittal, R. M., Baldwin, M. A., & Miller, W. L. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.13.7250 · Cited by 227 · see citing works
Self-citationArtemenko, I. P., Zhao, D., Hales, D. B., Hales, K. H., & Jefcoate, C. R. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m107815200 · Cited by 217 · see citing works
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Disorders in the initial steps of steroid hormone synthesis
Miller, W. L. (2017) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.03.009 · Cited by 205 · see citing works
Self-citationTajima, T., Fujieda, K., Kouda, N., Nakae, J., & Miller, W. L. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.8.7748 · Cited by 196 · see citing works
Self-citationBaker, B. Y., Lin, L., Kim, C. J., Raza, J., Smith, C. P., Miller, W. L., & Achermann, J. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1565 · Cited by 194 · see citing works
Self-citationMiller, W. L., & Strauss, J. F. (1999) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(98)00153-8 · Cited by 184 · see citing works
Self-citationAn update of congenital adrenal hyperplasia
NEW, M. I. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1315.009 · Cited by 178 · see citing works
Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia
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The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors
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Androgen biosynthesis from cholesterol to DHEA
Miller, W. L. (2002) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(02)00363-5 · Cited by 179 · see citing works
Self-citationCherradi, N., Rossier, M. F., Vallotton, M. B., Timberg, R., Friedberg, I., Orly, J., Wang, X. J., Stocco, D. M., & Capponi, A. M. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.12.7899 · Cited by 175 · see citing works
Prasad, M., Kaur, J., Pawlak, K. J., Bose, M., Whittal, R. M., & Bose, H. S. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.605808 · Cited by 163 · see citing works
Self-citationProfiling transcript levels for steroidogenic enzymes in fetal tissues
Pezzi, V., Mathis, J. M., Rainey, W. E., & Carr, B. R. (2003) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2003.07.006 · Cited by 156 · see citing works
Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1
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Merke, D. P., Bornstein, S. R., Avila, N. A., & Chrousos, G. P. (2002) · Annals of Internal Medicine · doi:10.7326/0003-4819-136-4-200202190-00012 · Cited by 147 · see citing works
Steroidogenic Acute Regulatory Protein
Christenson, L. K., & Strauss, J. F. (2001) · Archives of Medical Research · doi:10.1016/s0188-4409(01)00338-1 · Cited by 146 · see citing works
Self-citationBose, M., Whittal, R. M., Miller, W. L., & Bose, H. S. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m709221200 · Cited by 143 · see citing works
Self-citationThe syndrome of 17,20 lyase deficiency
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Kim, C. J., Lin, L., Huang, N., Quigley, C. A., AvRuskin, T. W., Achermann, J. C., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2330 · Cited by 139 · see citing works
Self-citationFan, J., Campioli, E., Midzak, A., Culty, M., & Papadopoulos, V. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1502670112 · Cited by 133 · see citing works
Androgen synthesis in adrenarche
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Self-citationHiort, O., Holterhus, P.-M., Werner, R., Marschke, C., Hoppe, U., Partsch, C.-J., Riepe, F. G., Achermann, J. C., & Struve, D. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1059 · Cited by 120 · see citing works
Caulfield, M. P., Lynn, T., Gottschalk, M. E., Jones, K. L., Taylor, N. F., Malunowicz, E. M., Shackleton, C. H. L., Reitz, R. E., & Fisher, D. A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8712 · Cited by 120 · see citing works
Current knowledge on the acute regulation of steroidogenesis
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Adrenal Mitochondria and Steroidogenesis: From Individual Proteins to Functional Protein Assemblies
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Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol
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Adrenal Androgens and Androgen Precursors-Definition, Synthesis, Regulation and Physiologic Actions
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Sahakitrungruang, T., Tee, M. K., Blackett, P. R., & Miller, W. L. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1828 · Cited by 111 · see citing works
Self-citationCongenital lipoid adrenal hyperplasia
Kim, C. J. (2014) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2014.19.4.179 · Cited by 105 · see citing works
Steroid Hormone Biosynthesis and Actions in the Materno Fetoplacental Unit
Miller, W. L. (1998) · Clinics in Perinatology · doi:10.1016/s0095-5108(18)30084-8 · Cited by 98 · see citing works
Self-citationFlück, C. E., Pandey, A. V., Dick, B., Camats, N., Fernández-Cancio, M., Clemente, M., Gussinyé, M., Carrascosa, A., Mullis, P. E., & Audi, L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020178 · Cited by 94 · see citing works
Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR
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Self-citationSahakitrungruang, T., Soccio, R. E., Lang-Muritano, M., Walker, J. M., Achermann, J. C., & Miller, W. L. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0437 · Cited by 91 · see citing works
Self-citationTee, M. K., Abramsohn, M., Loewenthal, N., Harris, M., Siwach, S., Kaplinsky, A., Markus, B., Birk, O., Sheffield, V. C., Pavari, R., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2828 · Cited by 89 · see citing works
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Self-citationMonogenic disorders of adrenal steroidogenesis
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A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings
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Self-citationOf marsupials and men: “Backdoor” dihydrotestosterone synthesis in male sexual differentiation
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Tuckey, R. C., Headlam, M. J., Bose, H. S., & Miller, W. L. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m206965200 · Cited by 67 · see citing works
Self-citationThe molecular basis of premature adrenarche: an hypothesis
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Classic congenital adrenal hyperplasia and its impact on reproduction
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Role of Mitochondria in Steroidogenesis
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Gucev, Z. S., Tee, M. K., Chitayat, D., Wherrett, D. K., & Miller, W. L. (2013) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2012.10.012 · Cited by 51 · see citing works
Self-citationFan, J., & Papadopoulos, V. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076701 · Cited by 48 · see citing works
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Near-miss apparent SIDS from adrenal crisis
Gassner, H. L., Toppari, J., Quinteiro González, S., & Miller, W. L. (2004) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.04.052 · Cited by 47 · see citing works
Self-citationPrimary adrenal insufficiency in childhood: data from a large nationwide cohort
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A brief history of adrenal research
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Self-citationCongenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
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The classic and nonclassic concenital adrenal hyperplasias
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The steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain
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FDXR variants cause adrenal insufficiency and atypical sexual development
Pignatti, E., Slone, J., Gómez Cano, M. Á., Campbell, T. M., Vu, J., Sauter, K.-S., Pandey, A. V., Martínez-Azorín, F., Alonso-Riaño, M., Neilson, D. E., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.179071 · Cited by 12 · see citing works
- Authors
- Bose, H. S., Sugawara, T., Strauss, J. F., & Miller, W. L.
- Affiliations
- University of California, San Francisco (US)
- University of Pennsylvania (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1996-12-19
- Volume
- 335
- Issue
- 25
- Pages
- 1870-1879
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2323979349
- Semantic Scholar
- 2b6d6b7f00ed80968b3dbb2d10d3fd54a99528b2
- Cited by
- 676
- References
- 31
- Citations by year
- 2026: 13 · 2025: 15 · 2024: 21 · 2023: 22 · 2022: 15 · 2021: 27 · 2020: 18 · 2019: 15 · 2018: 19 · 2017: 22 · 2016: 22 · 2015: 24 · 2014: 32 · 2013: 30 · 2012: 22
- FWCI
- 18.09
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Texas Tech University
- Hospital for Sick Children
- National Institutes of Health (5r01dk042154-09)
- University of Illinois at Urbana-Champaign
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital lipoid adrenal hyperplasia, steroidogenic acute regulatory protein, steroidogenesis, cholesterol esters, mitochondrial protein translocation, adrenal gland, gonads, genotype-phenotype correlation, ovarian steroid secretion
- MeSH terms
- Steroidogenic Acute Regulatory Protein, Adrenal Glands, Adrenal Hyperplasia, Congenital, Female, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Mutation, Phenotype, Phosphoproteins, Frameshift Mutation
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