An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1
X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high l...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2021/4367028 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850217944836997120 |
|---|---|
| author | Samira Kalayinia Saeed Talebi Mohammad Miryounesi Peymaneh Sarkhail Nejat Mahdieh |
| author_facet | Samira Kalayinia Saeed Talebi Mohammad Miryounesi Peymaneh Sarkhail Nejat Mahdieh |
| author_sort | Samira Kalayinia |
| collection | DOAJ |
| description | X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Point mutations, gene conversions, and large deletions of the CYP21A2 gene were checked. WES and segregation analyses were conducted. In silico analysis was also performed for the novel variant. The ACTH, 17-hydroxy progesterone c, and DHEA sulfate values were elevated up to 624.6 pg/mL, 8.6 pmol/L, and 17.8UMOL/L, respectively. No mutation was found in the CYP21A2 gene. WES identified a novel hemizygous frameshift insertion c.218_219insACCA: p.His73GlnfsTer41 variant in the NR0B1 gene with a pathogenic effect according to ACMG criteria. Genetic testing is helpful for differential diagnosis in primary adrenal insufficiency disorders. NR0B1 may be a common cause of congenital adrenal hypoplasia in our population. |
| format | Article |
| id | doaj-art-2ff8c709590f4e219cb6813edb06ab2a |
| institution | OA Journals |
| issn | 1687-8345 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-2ff8c709590f4e219cb6813edb06ab2a2025-08-20T02:07:56ZengWileyInternational Journal of Endocrinology1687-83452021-01-01202110.1155/2021/4367028An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1Samira Kalayinia0Saeed Talebi1Mohammad Miryounesi2Peymaneh Sarkhail3Nejat Mahdieh4Cardiogenetic Research CenterDepartment of Medical GeneticsDepartment of Medical GeneticsPediatric DepartmentCardiogenetic Research CenterX-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Point mutations, gene conversions, and large deletions of the CYP21A2 gene were checked. WES and segregation analyses were conducted. In silico analysis was also performed for the novel variant. The ACTH, 17-hydroxy progesterone c, and DHEA sulfate values were elevated up to 624.6 pg/mL, 8.6 pmol/L, and 17.8UMOL/L, respectively. No mutation was found in the CYP21A2 gene. WES identified a novel hemizygous frameshift insertion c.218_219insACCA: p.His73GlnfsTer41 variant in the NR0B1 gene with a pathogenic effect according to ACMG criteria. Genetic testing is helpful for differential diagnosis in primary adrenal insufficiency disorders. NR0B1 may be a common cause of congenital adrenal hypoplasia in our population.http://dx.doi.org/10.1155/2021/4367028 |
| spellingShingle | Samira Kalayinia Saeed Talebi Mohammad Miryounesi Peymaneh Sarkhail Nejat Mahdieh An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 International Journal of Endocrinology |
| title | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 |
| title_full | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 |
| title_fullStr | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 |
| title_full_unstemmed | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 |
| title_short | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 |
| title_sort | iranian congenital adrenal hypoplasia patient with elevated testosterone in infancy due to a novel pathogenic frameshift variant in nr0b1 |
| url | http://dx.doi.org/10.1155/2021/4367028 |
| work_keys_str_mv | AT samirakalayinia aniraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT saeedtalebi aniraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT mohammadmiryounesi aniraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT peymanehsarkhail aniraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT nejatmahdieh aniraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT samirakalayinia iraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT saeedtalebi iraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT mohammadmiryounesi iraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT peymanehsarkhail iraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 AT nejatmahdieh iraniancongenitaladrenalhypoplasiapatientwithelevatedtestosteroneininfancyduetoanovelpathogenicframeshiftvariantinnr0b1 |