A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations.
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We report the case of a 17-year-old boy with delayed puberty, who presented a complexity of clinical problems. An analysis of steroid hormones led to a diagnosis of 17alpha-hydroxylase/17,20-lyase deficiency (17OHD). Unlike typical cases of 17OHD, however, the patient had pubertal development without medical intervention. In addition, he never exhibited the symptoms of mineralocorticoid excess, showing instead the symptoms of glucocorticoid deficiency, including fatigability, emaciation, and weight-loss induced by minor infection. He also had dysmorphic features, which comprised marfanoid habitus, arachnodactyly and putative craniosynostosis. The combination of these malformations substantially resembled that of Shprintzen-Goldberg syndrome. Direct sequencing of the CYPl7 gene did not reveal any significant aberrations in the exons or exon-intron boundaries. We speculate that the association of partial combined 17OHD with the Shprintzen-Goldberg phenotype in the present patient may result from an aberration of a hitherto unknown gene that controls both steroid hormone synthesis and skeletal development.
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Beginning in 1985, several patients were described with apparent combined deficiencies of P450c17 and P450c21; it was suggested that a mutation in POR was responsible, but this was not proven until 2004.
“Beginning in 1985, several patients were described with ap-parent combined deficiencies of P450c17 and P450c21 (320 -324); it was suggested that a mutation in POR was responsible (325), but this was not proven until 2004 (314).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [324]
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- Authors
- ADACHI, M., TACHIBANA, K., ASAKURA, Y., SUWA, S., & NISHIMURA, G.
- Affiliations
- Kanagawa Children's Medical Center (JP)
- Dokkyo University (JP)
- Venue
- Endocrine Journal
- Publisher
- Japan Endocrine Society
- Published
- 1999
- Volume
- 46
- Issue
- 2
- Pages
- 285-292
- ISSN
- 0918-8959 (ISSN-L)
- 1348-4540
- OpenAlex
- W2072418739
- Cited by
- 33
- References
- 27
- Citations by year
- 2022: 1 · 2016: 1 · 2014: 2 · 2013: 1 · 2012: 1
- FWCI
- 0.11
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Endocrine Journal (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Keio University
- Hokkaido University
- 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 › Genetics › Connective tissue disorders research
- Keywords
- 17α-hydroxylase/17,20-lyase deficiency, CYP17 gene, glucocorticoid deficiency, skeletal dysplasia, Shprintzen-Goldberg syndrome, delayed puberty, arachnodactyly, craniosynostosis, Marfanoid habitus, steroidogenesis
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Bone and Bones, Humans, Male, Mutation, Radiography, Steroid 17-alpha-Hydroxylase, Syndrome
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