Testicular Histopathology in Congenital Lipoid Adrenal Hyperplasia: A Light and Electron Microscopic Study

Abstract

This paper describes the testicular histopathology in 2 male patients with congenital lipoid adrenal hyperplasia who underwent orchiectomy at age 7 (case 1) and 12 (case 2) years, respectively. In both cases, seminiferous tubules were normal in diameter (mean: case 1 88.7 μm; case 2 115.9 μm) and consisted of an age-appropriate number of type A spermatogonia (mean: case 1 1.7/tubule; case 2 4.0/tubule) and an increased number of Sertoli cells (mean: case 1 34.7/tubule; case 2 27.9/tubule). The interstitial space was abundant and contained normal to increased numbers of Leydig cells (mean: case 1 4.0/ tubule; case 2 6.1/tubule) that were filled with lipid droplets. We suspect that lipid accumulation in Leydig cells is consistent with defective conversion of cholesterol into pregnenolone and thus constitutes the characteristic feature of this disease, while the remaining findings appear to be common to disorders associated with hypergonadotropic hypogonadism.

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia

“…The histological analysis of HE sections revealed fewer seminiferous tubules and fewer germ cells in patients with lipoid CAH than in controls as reported previously (12). In the XY patients (except for Patient 3), the Leydig cells in the interstitium had a foamy appearance.…”

“…In the XY patients (except for Patient 3), the Leydig cells in the interstitium had a foamy appearance. Any of the XY patients did not have Leydig cells hyperplasia that was reported in only a few patients with lipoid CAH (12).…”

“…In this study, three XY infants with lipoid CAH showed significant increase in macrophage infiltration, the degree of which was less obvious in the infant testes compared with that in the adult ovaries. This is partly explained by the notion that hyperplasia of Leydig cells in infants is less manifested than that of the theca cells in adult patients (10,12). Intriguingly, testicular macrophages have the potential to provide 25-hydroxycholesterol as a direct substrate for P450 side-chain cleavage enzyme in an alternate pathway for steroidogenesis, which bypasses the STAR-dependent delivery of cholesterol into the inner mitochondrial membrane (15,16).…”

Stereological and morphometric analysis of collagen and seminiferous tubules in testes of patients with cryptorchidism submitted or not to treatment with human chorionic gonadotrophin

“…Another possibility to prove the hCG efficiency in treatment of cryptorchid testes is the determination of seminiferous tubules diameter (13,17). We compared our results of the seminiferous tubules diameter in cryptorchid patients treated and nontreated with hCG to the normal male patients studied by Aya et al (18). We observed that the mean diameter in treated and nontreated patients of our study was smaller than that of the normal children studied by Aya et al (18).…”

“…We compared our results of the seminiferous tubules diameter in cryptorchid patients treated and nontreated with hCG to the normal male patients studied by Aya et al (18). We observed that the mean diameter in treated and nontreated patients of our study was smaller than that of the normal children studied by Aya et al (18). In this study, normal 7 year old children present a mean diameter of 88.7 µm, while in our study, the mean diameter in patients with the same age was 75.79 µm for treated patients and 56.14 µm for nontreated patients.…”