Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature
Aromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in CYP19A1gene which has an autosomal recessive inheritance pattern. It leads to decrease in estrogen synthesis and delayed epiphyseal closure, eunuchoid habit...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Bone Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187222004764 |
| _version_ | 1811178819410722816 |
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| author | Pankaj Singhania Debasish Dash Abhranil Dhar Pritam Biswas Piyas Gargari Rana Bhattacharjee Subhankar Chowdhury Dipanjana Datta Emili Banerjee |
| author_facet | Pankaj Singhania Debasish Dash Abhranil Dhar Pritam Biswas Piyas Gargari Rana Bhattacharjee Subhankar Chowdhury Dipanjana Datta Emili Banerjee |
| author_sort | Pankaj Singhania |
| collection | DOAJ |
| description | Aromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in CYP19A1gene which has an autosomal recessive inheritance pattern. It leads to decrease in estrogen synthesis and delayed epiphyseal closure, eunuchoid habitus and osteopenia. We are presenting here, a 24 years old male, with history of progressive increase in height and knock knees. X-ray showed open wrist and knee epiphysis. The serum testosterone level was normal and serum estradiol level was undetectable. Semen analysis showed azoospermia. Clinical exome sequencing gave two novel mutations in CYP19A1. The first variant was a novel single nucleotide deletion of thiamine at 570th base of the cDNA (c.570delT) of CYP19A1 gene. The second variant detected was again a novel one in the same gene in Exon 5 corresponding 344th base of the cDNA (c344G>A) resulting in a missense mutation of 115th arginine to glutamine in the protein. Sanger sequencing showed that the later mutation was inherited from the father. The patient was started on oral estradiol valerate for epiphyseal closure to prevent further increase in height. Only 15 mutations have been reported in the aromatase gene in males till date, our report of these novel mutations will be an add-on to the literature. |
| first_indexed | 2024-04-11T06:25:20Z |
| format | Article |
| id | doaj.art-98b8058fbfab444a926f0f728715367f |
| institution | Directory Open Access Journal |
| issn | 2352-1872 |
| language | English |
| last_indexed | 2024-04-11T06:25:20Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Bone Reports |
| spelling | doaj.art-98b8058fbfab444a926f0f728715367f2022-12-22T04:40:24ZengElsevierBone Reports2352-18722022-12-0117101642Aromatase deficiency in a tall man: Case report of two novel mutations and review of literaturePankaj Singhania0Debasish Dash1Abhranil Dhar2Pritam Biswas3Piyas Gargari4Rana Bhattacharjee5Subhankar Chowdhury6Dipanjana Datta7Emili Banerjee8Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, India; Corresponding author.Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, 244, AJC Bose Road, Kolkata 700020, West Bengal, IndiaInstitute of Child Health, Kolkata, India; Organization of Rare Disease, Bengaluru, IndiaLifecell International Pvt Ltd, IndiaAromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in CYP19A1gene which has an autosomal recessive inheritance pattern. It leads to decrease in estrogen synthesis and delayed epiphyseal closure, eunuchoid habitus and osteopenia. We are presenting here, a 24 years old male, with history of progressive increase in height and knock knees. X-ray showed open wrist and knee epiphysis. The serum testosterone level was normal and serum estradiol level was undetectable. Semen analysis showed azoospermia. Clinical exome sequencing gave two novel mutations in CYP19A1. The first variant was a novel single nucleotide deletion of thiamine at 570th base of the cDNA (c.570delT) of CYP19A1 gene. The second variant detected was again a novel one in the same gene in Exon 5 corresponding 344th base of the cDNA (c344G>A) resulting in a missense mutation of 115th arginine to glutamine in the protein. Sanger sequencing showed that the later mutation was inherited from the father. The patient was started on oral estradiol valerate for epiphyseal closure to prevent further increase in height. Only 15 mutations have been reported in the aromatase gene in males till date, our report of these novel mutations will be an add-on to the literature.http://www.sciencedirect.com/science/article/pii/S2352187222004764AromataseKnock kneeTall statureEstradiolEpiphysis |
| spellingShingle | Pankaj Singhania Debasish Dash Abhranil Dhar Pritam Biswas Piyas Gargari Rana Bhattacharjee Subhankar Chowdhury Dipanjana Datta Emili Banerjee Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature Bone Reports Aromatase Knock knee Tall stature Estradiol Epiphysis |
| title | Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature |
| title_full | Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature |
| title_fullStr | Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature |
| title_full_unstemmed | Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature |
| title_short | Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature |
| title_sort | aromatase deficiency in a tall man case report of two novel mutations and review of literature |
| topic | Aromatase Knock knee Tall stature Estradiol Epiphysis |
| url | http://www.sciencedirect.com/science/article/pii/S2352187222004764 |
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