Prenatal diagnosis of congenital lipoid adrenal hyperplasia.
Abstract
Congenital lipoid adrenal hyperplasia (lipoid CAH) is a rare genetic disorder of adrenal and gonadal steroidogenesis of unknown cause in which cholesterol cannot be converted to pregnenolone. As a result, affected individuals can make no steroid hormones, so that all affected newborns are phenotypic females, irrespective of karyotype. We studied two pregnancies in a family with two previously affected children by examining fetal karyotype, genital ultrasonography, and amniotic fluid steroid concentrations and by performing ACTH tests on family members. Prenatal diagnosis correctly identified both an unaffected XX fetus and an affected XY fetus. In the affected pregnancy, amniotic fluid concentrations of progesterone and pregnenolone were 30% and 50% of normal, respectively, but concentrations of 17 alpha-hydroxypregnenolone, 17 alpha-hydroxyprogesterone, cortisol, dehydroepiandrosterone, androstenedione, and estriol were either extremely low or undetectable, suggesting that these detected steroids were donated by maternal steroidogenesis. Fetal cord blood obtained at the termination of pregnancy showed very low concentrations of estrogens donated by the mother's circulation. Absent fetal steroidogenesis was confirmed by gas chromatography and mass spectrometry of both fetal and maternal serum. The responses of 10 different steroids to adrenal stimulation with ACTH in the obligately heterozygous parents were normal. Thus, unlike the case with other forms of CAH, heterozygosity cannot be determined by hormonal responses to provocative testing with ACTH. Immunocytochemistry and Western blotting showed that the affected placental tissue contained P450scc protein, confirming that P450scc is intact in these patients.
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Placental steroidogenesis persists in lipoid CAH, permitting normal term gestation, which would not be expected to happen if P450scc were involved.
“Furthermore, placental steroidogenesis persists in lipoid CAH, permitting normal term gestation, which would not be expected to happen if P450scc were involved (103).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [103]
In lipoid CAH, the steroidogenically active fetal zone of the adrenal is affected, eliminating most DHEA biosynthesis and fetoplacental estriol production, so midgestation maternal and fetal estriol levels are very low.
“The steroido- genically active fetal zone of the adrenal is similarly affected, eliminating most dehydroepiandrosterone (DHEA) biosynthesis, and hence eliminating the fetoplacental production of estriol, so that midgestation maternal and fetal estriol levels are very low (103).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [103]
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Self-citationCongenital Adrenal Hyperplasia
Trapp, C. M., Levine, L. S., & Oberfield, S. E. (2013) · Humana Press eBooks · doi:10.1007/978-1-60761-395-4_13
Nistal, M., & González‐Peramato, P. (2016) · Springer eBooks · doi:10.1007/978-3-319-27617-5_2
Disorders in the initial steps in steroidogenesis
Miller, W. L., & Gucev, Z. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00011-3
Self-citationNonneoplastic diseases of the testis
Nistal, M., Paniagua, R., & González‐Peramato, P. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4327-8.00012-7
Stéroïdomique corticosurrénalienne par LC-MS/MS : applications en endocrinologie pédiatrique
Travers, S. A. A. (2020) · theses.fr (ABES) · doi:10.70675/84cf9c3bze93ez41dcza251z559f27f3c6a6
- Authors
- Saenger, P., Klonari, Z., Black, S. M., Compagnone, N., Mellon, S. H., Fleischer, A., Abrams, C. A., Shackelton, C. H., & Miller, W. L.
- Affiliations
- Albert Einstein College of Medicine (US)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1995-01
- Volume
- 80
- Issue
- 1
- Pages
- 200-205
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1999010823
- Cited by
- 81
- References
- 27
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2021: 2 · 2020: 2 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 1 · 2014: 4 · 2013: 5 · 2012: 2
- FWCI
- 2.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, R01DK037922)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital lipoid adrenal hyperplasia, prenatal diagnosis, steroidogenesis, ACTH stimulation test, heterozygosity, P450scc, placental steroidogenesis, fetal karyotype, gonadal steroidogenesis
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenocorticotropic Hormone, Amniotic Fluid, Female, Fetal Blood, Heterozygote, Humans, Gas Chromatography-Mass Spectrometry, Pregnancy, Pregnenolone, Prenatal Diagnosis, Progesterone, Steroids, Ultrasonography
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