Garcia Cyril, Dusaud Marie, Chiron Paul, Sollier Mathilde, Nassouri Sika, Groussin Lionel, Sibony Mathilde, Goursaud Claire, Roucher-Boulez Florence, Bordier Lyse
Hôpital d'Instruction des Armées BEGIN, Service d'endocrinologie, 69 avenue de Paris, Saint-Mande 94160, France.
Hôpital d'Instruction des Armées BEGIN, Service d'urologie, 69 avenue de Paris, Saint-Mande 94160, France.
Case Rep Endocrinol. 2021 Dec 23;2021:5889007. doi: 10.1155/2021/5889007. eCollection 2021.
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 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.
肾上腺生殖器综合征通常与21-羟化酶缺乏有关，但也可能存在于其他罕见的酶阻断情况中。我们在此报告一例31岁男性病例，该患者双侧睾丸出现疼痛性病变，因怀疑为恶性肿瘤而接受了双侧部分睾丸切除术。这些病变最终被确定为良性睾丸肾上腺残余肿瘤（TARTs），实际上该患者因编码胆固醇侧链裂解酶（P450scc）的基因发生2个突变而被迟发性诊断为原发性肾上腺功能不全；这两个突变分别为940G＞A（p.Glu314Lys）和c.1393C＞T（p.Arg465Trp）。在他29岁的妹妹身上也发现了相同的突变，随后她也被诊断为原发性肾上腺功能不全。P450scc缺乏是一种极其罕见的常染色体隐性遗传疾病，文献中报道了约40个家系，有30种不同的突变。由于P450Scc突变延迟发作的诊断困难，该病例说明了在任何双侧睾丸病变的情况下都需要进行系统的内分泌评估，从而避免不必要的手术。
