التفاصيل البيبلوغرافية
| العنوان: |
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant |
| المؤلفون: |
Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, Clarissa D Voegel, Rawda Naamneh Elzenaty, Victor S Wasehuus, Marie Lind-Holst, Marie Juul Ornstrup, Stine Bjørn Gram, Lilian Bomme Ousager, Christa E Flück, Claus H Gravholt |
| المصدر: |
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-8 (2024) |
| بيانات النشر: |
Bioscientifica, 2024. |
| سنة النشر: |
2024 |
| المجموعة: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: |
Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: |
Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2D/HSD3B2) despite early hospital admission and apparent CAH manifestations such as infections, hirsutism, menstrual disturbances, and PCOS phenotype. Initially, sister 1 was misdiagnosed with PCOS and then 11-hydroxylase deficiency (CYP11B1), based on ultrasound, biochemical findings, and negative genetic testing for 21-hydroxylase deficiency (CYP21A2). Additional diagnostic workup was performed when sister 2 also presented with symptoms of androgen excess. Genetic testing for CAH/steroid disorders finally revealed that both siblings were compound heterozygous for two variants in the HSD3B2 gene: a frameshift variant, c.558dup, p.(Thr187Hisfs*17) and a novel missense variant, c.65T>C, p.(Leu22Ser). A Synacthen test showed an insufficient cortisol increase. In vitro studies of the variants in a cell model revealed loss of function for the p.(Thr187Hisfs*17) and partial activity for p.(Leu22Ser) confirming non-classic CAH. Overlapping symptomatology and lack of specialized knowledge on steroid biosynthesis and associated rarest forms of CAH may explain the delayed diagnosis. However, with newer diagnostic methods comprising a less biased approach, very rare forms of non-classical CAH may no longer be overlooked in the future. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2052-0573 |
| Relation: |
https://edm.bioscientifica.com/view/journals/edm/2024/3/EDM23-0090.xml; https://doaj.org/toc/2052-0573 |
| DOI: |
10.1530/EDM-23-0090 |
| URL الوصول: |
https://doaj.org/article/fa243a86ff684261b55f0ddbd54c03c6 |
| رقم الانضمام: |
edsdoj.fa243a86ff684261b55f0ddbd54c03c6 |
| قاعدة البيانات: |
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