Case of bilateral Testicular Tumors subsequently diagnosed as Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

21-hydroxylase deficiency [21-OHD] caused congenital adrenal hyperplasia [CAH] is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol [CO] synthesis in the adrenal glands. Testicular adrenal rest tumors [TARTs] are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone [ACTH], urinary 17-ketone steroids [17-KS], dehydroepiandrosterone sulfate [DHEA-S], and serum progesterone [PRGE] were elevated, whereas those of follicle-stimulating hormone [FSH], luteinizing hormone [LH], and CO were reduced. Computed tomography [CT] of the adrenal glands and magnetic resonance imaging [MRI] of the testes showed a soft tissue density [more pronounced on the right side] and an irregularly swollen mass [more pronounced on the left side], respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient's symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART

Sperm selection in assisted reproductive technology: an update / 中华男科学杂志

Sperm selection plays an important role in assisted reproductive technology. In recent years, sperm evaluation is not limited to the assessment of sperm motility and morphology, but involves more other sperm characteristics such as sperm ultrastructure, DNA integrity, apoptosis and membrane. Assessment based on these characteristics is becoming the aim of sperm selection. This article gives an overview on several newly developed techniques for sperm selection according to different technical principles, such as electrophoretic separation, zeta potential, HA binding, Annexin V binding, intracytoplasmic morphologically selected sperm injection (IMSI) and microfluidic sperm sorter, which have all been applied to IVF or ICSI with the exception of microfluidic sperm sorter. It also introduces the advantages, disadvantages and application effects of these techniques.

Ring 22 chromosome syndrome induced azoospermia: a case report and literature review / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome.</p><p><b>METHODS</b>We analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and reviewed relevant literature.</p><p><b>RESULTS</b>The patient was a short 29-year-old male, with bilateral testes small in size and soft in texture. Seminal examination indicated azoospermia. Chromosome analysis showed the karyotype of the patient to be 46, XY, r (22) (p11, q25). The level of testosterone was low, and the testicular tissue was brittle and easy to break. Pathological microscopy revealed reduced number of Sertoli cells and germ cells in the seminiferous tubules and thinner layers of cells. All the germ cells were spermatogonia. Neither spermatocytes nor sperm cells were found, which suggested complete spermatogenic failure. Mild interstitial fibrosis was visible in part of the seminiferous tubule walls.</p><p><b>CONCLUSION</b>Patients with ring 22 chromosome syndrome usually represent normal clinical phenotypes. However, this kind of genetic abnormality often induces severe testicular damage and spermatogenic arrest, which may result in azoospermia.</p>

Globozoospermia syndrome: an update / 中华男科学杂志

Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients.

Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors: one-case clinical analysis / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the early diagnosis and treatment of congenital adrenal hyperplasia (CAH) complicated by testicular adrenal rest tumors (TART).</p><p><b>METHODS</b>We retrospectively analyzed the clinical data of 1 case of late-onset CAH complicated by TART diagnosed and treated in Xiamen Women and Children Health Care Hospital.</p><p><b>RESULTS</b>The patient was a 15 years old boy, short statured and dark skinned, with skin pigmentation in the gum and external genital, secondary sex characteristics of the adult and irregular tubercles palpable in the bilateral testes. Laboratory examinations showed obviously increased levels of ACTH, 17-KS, DHEA-S and progesterone and evidently decreased levels of FSH, LH and CO. The low-dose dexamethasone suppression test reduced ACTH and DHEA-S to normal. Imaging examinations revealed soft tissue density in the bilateral adrenal glands, especially on the right, and irregularly increased volume of the bilateral testes, particularly on the left, with heterogeneous signals and septas and surrounded by the fluid signals. Histopathological examinations showed the eosinophilic cytoplasm to be polygon- or round-shaped, interstitium-like cells arranged in line, and lipopigment in the endochylema. Immunohistochemical results were negative for testicular interstitial cell tumor. The clinical signs of the patient were improved after 3 months of dexamethasone treatment, the hyperplastic nodules in the left testis decreased obviously and those in the right testis disappeared after 6 months, and the hyperplastic nodules in the adrenal glands vanished after 9 months.</p><p><b>CONCLUSION</b>Based on the clinical manifestations and the results of auxiliary examinations, this case was diagnosed as late-onset CAH complicated by TART, which was attributed to the continued surge of ACTH induced by corticoadrenal insufficiency. Sufficient dexamethasone treatment could make the TART decrease or disappear and the CAH vanish; it could also improve the clinical symptoms and bring the laboratory results to normal.</p>