Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency
Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2021/5889007 |
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| author | Cyril Garcia Marie Dusaud Paul Chiron Mathilde Sollier Sika Nassouri Lionel Groussin Mathilde Sibony Claire Goursaud Florence Roucher-Boulez Lyse Bordier |
| author_facet | Cyril Garcia Marie Dusaud Paul Chiron Mathilde Sollier Sika Nassouri Lionel Groussin Mathilde Sibony Claire Goursaud Florence Roucher-Boulez Lyse Bordier |
| author_sort | Cyril Garcia |
| collection | DOAJ |
| description | Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the CYP11A1 gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.Glu314Lys) and c.1393C > T (p.Arg465Trp). The same mutations were found in his 29-year-old sister, who was then also diagnosed for primary adrenal insufficiency. Deficiency in P450scc is an extremely rare genetic autosomal recessive disorder with around 40 described families in the literature and 30 different mutations. As the diagnosis of delayed onset of P450Scc mutation is difficult, this case illustrates the need for a systematic endocrinological assessment in any case of bilateral testicle lesions, thus avoiding unnecessary surgery. |
| format | Article |
| id | doaj-art-8d090a2dcad44155bae36d0946bcb3de |
| institution | Kabale University |
| issn | 2090-651X |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-8d090a2dcad44155bae36d0946bcb3de2025-08-20T03:37:44ZengWileyCase Reports in Endocrinology2090-651X2021-01-01202110.1155/2021/5889007Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 DeficiencyCyril Garcia0Marie Dusaud1Paul Chiron2Mathilde Sollier3Sika Nassouri4Lionel Groussin5Mathilde Sibony6Claire Goursaud7Florence Roucher-Boulez8Lyse Bordier9Hôpital d’Instruction des Armées BEGINHôpital d’Instruction des Armées BEGINHôpital d’Instruction des Armées BEGINHôpital d’Instruction des Armées BEGINHôpital d’Instruction des Armées BEGINHôpital COCHINHôpital COCHINHospices Civils de Lyon-BronHospices Civils de Lyon-BronHôpital d’Instruction des Armées BEGINAdrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the CYP11A1 gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.Glu314Lys) and c.1393C > T (p.Arg465Trp). The same mutations were found in his 29-year-old sister, who was then also diagnosed for primary adrenal insufficiency. Deficiency in P450scc is an extremely rare genetic autosomal recessive disorder with around 40 described families in the literature and 30 different mutations. As the diagnosis of delayed onset of P450Scc mutation is difficult, this case illustrates the need for a systematic endocrinological assessment in any case of bilateral testicle lesions, thus avoiding unnecessary surgery.http://dx.doi.org/10.1155/2021/5889007 |
| spellingShingle | Cyril Garcia Marie Dusaud Paul Chiron Mathilde Sollier Sika Nassouri Lionel Groussin Mathilde Sibony Claire Goursaud Florence Roucher-Boulez Lyse Bordier Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency Case Reports in Endocrinology |
| title | Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency |
| title_full | Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency |
| title_fullStr | Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency |
| title_full_unstemmed | Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency |
| title_short | Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency |
| title_sort | atypical presentation of testicular adrenal rest tumor tart leading to bilateral partial orchiectomy in a 31 year old adult revealing primary adrenal insufficiency with cyp11a1 deficiency |
| url | http://dx.doi.org/10.1155/2021/5889007 |
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