We describe two males with congenital ichthyosis secondary to steroid sulphatase deficiency who also manifested delayed puberty with biochemical features of hypogonadotrophic hypogonadism. In the first patient a history of cryptorchidism and the clinical findings of anosmia, micropenis and bimanual synkinesis suggested a contiguous gene syndrome, comprising X-linked Kallmann's syndrome and X-linked ichthyosis. An X-Y chromosomal translocation involving the Xp22.3 locus was identified; deletions of the STS locus and of exons 10-14 of the KAL locus were subsequently demonstrated. The second patient was euosmic and, although the STS locus was deleted in association with a pericentric inversion involving Xp22.3, no deletions were detected at the KAL locus. Clinically, he was felt to have constitutionally delayed puberty rather than hypogonadotropic hypogonadism and this diagnosis was substantiated by his subsequent development.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Steroid sulfatase suppresses keratinization by inducing proteasomal degradation of E-cadherin via Hakai regulation.
Biochim Biophys Acta Mol Cell Res
January 2025
College of Pharmacy and Center for Metareceptome Research, Chung-Ang University, Seoul 06974, Republic of Korea. Electronic address:
X-linked ichthyosis (XLI) is a genetic disorder characterized by a steroid sulfatase (STS) deficiency inducing excessive cholesterol sulfate accumulation and keratinization. Our study utilizes STS knockout mice to reproduce the hyperkeratinization typical of XLI, providing a valuable model for investigating the underlying mechanisms. From the experiment of STS-deficient keratinocytes using the CRISPR/Cas9 system, we observed upregulation of E-cadherin, which is associated with keratinocyte differentiation and stratification.
View Article and Find Full Text PDFMolecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Article Synopsis
- X-linked ichthyosis is a genetic skin condition characterized by dry, scaly skin caused by a mutation in the steroid sulfatase gene.
- Patients with this condition face specific challenges during surgery, requiring careful multidisciplinary management and attention from anesthesiologists.
- A case study highlights a 6-year-old boy with X-linked ichthyosis who successfully underwent surgery for undescended testis, emphasizing the need for thorough planning and careful anesthetic techniques during the procedure.
Revisiting X-linked congenital ichthyosis.
Int J Dermatol
January 2025
Department of Pathology, School of Medicine, Hunan Normal University, Changsha, People's Republic of China.
Article Synopsis
- X-linked recessive ichthyosis (XLI) is a hereditary skin condition that leads to dry, scaling skin and can have other health impacts, primarily affecting males with a prevalence of 1 in 6,000 to 1 in 2,000.
- The condition is caused by mutations in the steroid sulfatase gene (STS) located on the X chromosome, leading to the buildup of cholesterol sulfate in the skin, which disrupts its protective barrier.
- The review covers XLI's genetic, clinical, and pathological details, along with its diagnosis, treatment options, and the potential for improved clinical diagnosis and prenatal testing through understanding STS gene variants.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!