Lipoid congenital adrenal hyperplasia (lipoid CAH) is a rare disorder of steroid biosynthesis that is caused by a molecular defect in the steroidogenic acute regulatory protein. Patients with lipoid CAH usually experience life-threatening adrenal insufficiency and develop female external genitalia in both genetic sexes because of deficient gonadal steroid synthesis. Little is known regarding testicular histology in patients with lipoid CAH, and less is known about the changes in testicular histology with growth. This article describes testicular histopathology in a patient with 46, XY lipoid CAH who underwent orchiectomy at the age of 8 years.
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Thirty years of StAR gazing: expanding the universe of the steroidogenic acute regulatory protein.
J Endocrinol
January 2025
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.
J Clin Res Pediatr Endocrinol
January 2025
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.
View Article and Find Full Text PDFNovel Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests.
JCEM Case Rep
June 2024
Department of Internal Medicine, Sakra World Hospitals, Bangalore 560103, Karnataka State, India.
A mutation in the steroidogenic acute regulatory protein () gene, which encodes a protein that plays a crucial role in steroid hormone synthesis, causes a severe form of congenital adrenal hyperplasia (CAH) known as lipoid CAH (LCAH). LCAH presents with primary adrenal insufficiency (PAI) as well as atypical genitalia. Individuals with LCAH require adrenal steroid hormone supplements for survival.
View Article and Find Full Text PDFCongenital lipoid adrenal hyperplasia with Graves' disease: A case report.
World J Clin Cases
September 2022
Department of Endocrinology, Changchun Central Hospital, Changchun 110000, Jilin Province, China.
Background: Congenital adrenal hyperplasia (CAH), which is caused by a mutation of the steroidogenic acute regulatory (StAR) gene. Affected patients are usually characterized by adrenal insufficiency in the first year of life, salt loss, glucocorticoid and mineralocorticoid deficiency, and female external genitalia, regardless of chromosomal karyotype. Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.
View Article and Find Full Text PDFClinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in and .
Sisli Etfal Hastan Tip Bul
June 2022
Department of Pediatric Genetics, Dr. Behçet Uz Children's Training and Research Hospital, Izmir, Turkey.
Objectives: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-β-hydroxysteroid dehydrogenase deficiency, 11-β-hydroxylase deficiency (11β-OHD) (%5-8), 17-α-hydroxylase deficiency (17α-OHD), and steroidogenic acute regulatory protein () defects (congenital lipoid adrenal hyperplasia) with mutations in , and , respectively.
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