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

Abstract

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.

Side‐chain cleavage enzyme deficiency: Systematic review and case series

“…Data on the gonadal axis were available for 20 46,XY SCCD‐TMG patients at varied ages (0.25–38 years) (Table 3). 6,7,10–14 In all seven patients aged <9 years, serum gonadotropins were appropriate for age, though hCG‐stimulated serum testosterone was low in two of the evaluated patients (0.06 and 0.43 ng/ml). Subcentimetric TARTs on sonogram were reported in one patient at 8.6 years.…”

“…Note:To convert values of ACTH in pg/ml to pmol/liter, multiply by 0.2202; aldosterone in ng/dl to nmol/liter, multiply by 0.0277; cortisol in µg/dl to nmol/liter, multiply by 27.59. *p < .05 is considered clinically significant.p.Arg232Ter and monoallelic p.Val79Ile) mainly were associated with typical male genitalia, except three 46,XY patients from two families with p.Glu314Lys/X-CHS who had atypical/female genitalia.Data on the gonadal axis were available for 20 46,XY SCCD-TMG patients at varied ages (0.25-38 years) (Table3) 6,7,[10][11][12][13][14]. In all seven patients aged <9 years, serum gonadotropins were appropriate for age, though hCG-stimulated serum testosterone was low in two of the evaluated patients (0.06 and 0.43 ng/ml).…”