Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.
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| http://dx.doi.org/10.1177/11795514231167059 | DOI Listing |
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Thirty years of StAR gazing: expanding the universe of the steroidogenic acute regulatory protein.
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W L Miller, Department of Pediatrics, Center for Reproductive Sciences, and Institute for Human Genetics University of California, San Francisco, United Kingdom of Great Britain and Northern Ireland.
Current understanding of the biology, biochemistry and genetics of the steroidogenic acute regulatory protein (StAR) and its deficiency state (congenital lipoid adrenal hyperplasia, lipoid CAH) involves the complex interplay of four areas of study: the acute regulation of steroidogenesis, clinical phenomena in lipoid CAH, the enzymatic conversion of cholesterol to pregnenolone in steroidogenic mitochondria, and the cell biology of StAR. This review traces the origins of these areas of study, describes how they have been woven into an increasingly coherent fabric, and tries to explore some remaining loose ends in this ongoing field of endocrine research. Abundant research from multiple laboratories establishes that StAR is required for the rapid, abundant steroidal responses of the adrenals and gonads, but all steroidogenic cells, especially the placenta, have StAR-independent steroidogenesis, whose basis remains under investigation.
View Article and Find Full Text PDFRare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
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University of Health Sciences Turkey, Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed.
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Department of Pediatrics, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
Article Synopsis
- - The study focuses on genetic variants of the STAR protein that lead to lipoid congenital adrenal hyperplasia, a condition marked by disrupted steroid production in adrenal glands and gonads.
- - Researchers created genetically modified Y1 mouse tumor cells, which showed a slight ability to produce pregnenolone, and displayed changes similar to those found in patients with the condition when stimulated for two weeks.
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Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.
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Department of Reproductive Biology Dr. Carlos Gual Castro Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14080, Mexico.
Case: We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.
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Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Congenital lipoid adrenal hyperplasia is a very rare and severe cause of adrenal insufficiency. It occurs due to a mutation of the steroidogenic acute regulatory protein (StAR), disrupting adrenal steroid biosynthesis. Here, we report a case of a three-week-old female infant with vomiting, failure to thrive, electrolyte imbalance, and generalized hyperpigmentation.
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