A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report.

Genetic causes account for 10-15% of male factor infertility, making the genetic investigation an essential and useful tool, mainly in azoospermic and severely oligozoospermic men. In these patients, the most frequent findings are chromosomal abnormalities and Y chromosome long arm microdeletions, which cause a primary severe spermatogenic impairment with classically increased levels of FSH. On the other hand, polymorphisms in the FSH receptor (FSHR) and FSH beta chain (FSHB) genes have been associated with different FSH plasma levels, due to variations in the receptor sensitivity (FSHR) or in the production of FSH from the pituitary gland (FSHB).

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease.

We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the gene was tested, and a known pathogenetic variant (c.464-1G>A; p.

Impact of Drought on Soluble Sugars and Free Proline Content in Selected Mutants.

Water shortage is an increasing problem affecting crop yield. Accumulation of compatible osmolytes is a typical plant response to overcome water stress. Sucrose synthase 1 (SUS1), and glucan, water dikinase 2 (GWD2) and δ-pyrroline-5-carboxylate synthetase 1 (P5CS1) are members of small protein families whose role in the response of plants to mild osmotic stress has been studied in this work.

Management of premature ejaculation: a clinical guideline from the Italian Society of Andrology and Sexual Medicine (SIAMS).

Premature ejaculation (PE) is the most prevalent male sexual dysfunction, and the most recently defined. PE is often mistakenly considered a purely psychosexological symptom by patients: the lacking awareness in regards to the pathophysiology and treatments often lead to resignation from the patients' side, making PE the most underdiagnosed sexual complaint. However, an ever-growing body of evidence supporting several organic factors has been developed in the last decades and several definitions have been suggested to encompass all defining features of PE.

Environmental impact of an Italian wine bottle: Carbon and water footprint assessment.

The food sector represents one of the major impacting sectors from an environmental point of view and, among all the products, wine emerges as one of the most studied by the literature. Single-issue approaches are commonly used, but a more comprehensive analysis is desirable, since a single indicator does not properly track the pressure on the environment. This paper presents a combined carbon and water footprint assessment, with a cradle to grave approach, for a protected designation of origin Italian red wine, and suggests a correlation among the two indicators across the life cycle phases.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject.

Primary prevention implantation of cardioverter defibrillator without defibrillation threshold testing: 2-year follow-up.

Background: Even though the intraoperative threshold testing of the implantable cardioverter defibrillator (ICD) may cause hemodynamic impairment or be unfeasible, it is still considered required standard practice at the time of implantation. We compared the outcome of ICD recipients who underwent defibrillation threshold testing (DFT) with that of patients in whom no testing was performed.

Methods: A total of 291 subjects with ischemic dilated cardiomyopathy received transvenous ICDs between January 2000 and December 2004 in five Italian cardiology centers.

Use of a retrograde nail for ankle arthrodesis in Charcot neuroarthropathy: a limb salvage procedure.

Background: Charcot neuroarthropathy is a serious complication associated with diabetic neuropathy. This complication probably is most serious when the ankle is involved because of the instability and progressive deformity, which often leads to ulceration, osteomyelitis, and amputation. Arthrodesis before the ulcerated lesion appears is considered a limb salvage treatment.

Suppression of the high endogenous levels of plasma FSH in infertile men are associated with improved Sertoli cell function as reflected by elevated levels of plasma inhibin B.

Background: In vitro continuous stimulation of Sertoli cells with FSH leads to a desensitization of these cells to FSH action. To evaluate the presence of a desensitization of FSH receptor on Sertoli cells in vivo, we performed a controlled clinical study in 97 men affected by severe oligozoospermia.

Methods: On the basis of FSH and inhibin B plasma concentrations, these subjects were divided into three groups: group A, 33 subjects with high FSH and low inhibin B plasma levels; group B, 32 subjects with high FSH plasma levels and inhibin B concentrations at the lower limit of the normal range; and group C, 32 subjects with normal FSH and inhibin B plasma levels.

Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH.

Objective: The DAZ (deleted in azoospermia) gene family on the Y chromosome long arm is the major candidate for the AZFc (azoospermia factor c) phenotype of male infertility and it is expressed only in germ cells. The aim of the study was to assess Sertoli cell function in subjects with AZFc deletions.

Design: Case-control, prospective study.

Use of recombinant human follicle-stimulating hormone in the treatment of male factor infertility.

Objective: To evaluate the effects of treatment with recombinant human FSH (r-hFSH) on seminal parameters and seminiferous epithelium in idiopathic patients with oligozoospermia with normal FSH plasma levels.

Design: Randomized single-blind study.

Setting: Academic setting.

Store-operated calcium influx and stimulation of steroidogenesis in rat Leydig cells: role of Ca(2+)-activated K(+) channels.

This study evaluates the role of internal calcium store depletion in the activation of ionic fluxes and steroidogenesis in adult rat Leydig cells. Thapsigargin and cyclopiazonic acid, two inhibitors of Ca(2+)-adenosine triphosphatase of internal Ca(2+) stores induced a dose-dependent rise in intracellular Ca(2+) concentrations following kinetics that would not be expected if the calcium rise was dependent only on internal calcium store depletion, but it was in keeping with the presence of calcium influx from the external medium. In fact, chelation of external calcium with EGTA during the plateau phase reduced the intracellular calcium concentration to basal levels.

[Needle aspiration testicular cytology as diagnostic parameter in the assessment with varicocele].

Objective: Varicocele is considered the most common cause of male infertility. The pathogenesis of the spermatogenetic impairment in this disease is not completely understood and the seminal patterns of patients with varicocele are different. Testicular fine-needle aspiration cytology (FNAC) in infertile men allows us to obtain many information about the type and the degree of alteration of the seminiferous tubule.

Extracellular ATP stimulates estradiol secretion in rat Sertoli cells in vitro: modulation by external sodium.

In this study, we examined the effects of extracellular ATP (ATPe) on [Ca(2+)](i), [Na(+)](i), plasma membrane potential changes and estradiol secretion in rat Sertoli cells. ATPe caused a rapid rise of [Ca(2+)](i) with an initial spike followed by a long lasting plateau. The first rapid spike was dependent on the release of Ca(2+) from internal stores as it also occurred in Ca(2+)-free medium while the long lasting plateau phase was dependent on Ca(2+) influx from the external medium.

Sertoli cell function in infertile patients with and without microdeletions of the azoospermia factors on the Y chromosome long arm.

Deletions of the azoospermia factors on the Y chromosome long arm are an important cause of male infertility, and they may involve germ cell-specific genes or ubiquitously expressed genes. To date, no clinical or hormonal parameters have yet been found to distinguish patients with and without Yq microdeletions. In particular, Sertoli cell function, as evaluated by inhibin B, has not yet been described.

Evidence for FSH-dependent upregulation of SPATA2 (spermatogenesis-associated protein 2).

Here we report the cloning and characterization of a novel cDNA named spata 2. SPATA2 is the ortholog of PD1, a human testicular protein which has been suggested to play a role in spermatogenesis. The spata 2 sequence reveals an open reading frame encoding a protein of 511 amino acids.

A novel gene (PD1) with a potential role on rat spermatogenesis.

PD1 is a novel protein particularly expressed at the testicular level. The relative cDNA sequences were cloned from human and rat testis libraries revealing an open reading frame for a protein of 520 and 511 amino acids respectively. The human PD1 amino acid sequence shows 85% identity with rat sequence suggesting that PD1 gene has been highly conserved during mammalian evolution.

[Analysis of sperm aneuploidy in infertile subjects after chemotherapy treatment].

The continuing search for a cure for cancer has developed more aggressive therapies that may damage germ cells, leading to clinical disease in offspring of survivors. Standard therapy for the majority of cancer today consists in combinations of high doses of radiation and chemotherapy drugs. We investigated the effect of cancer treatments on the reproductive potential of men.

How can the assessment of fistula-inano be improved?

Purpose: Fistula-in-ano anatomy and its relationship with anal sphincters are important factors influencing the results of surgical management. Preoperative definition of fistulous track(s) and the internal opening play a primary role in minimizing iatrogenic damage to the sphincters and recurrence of the fistula.

Methods: Physical examination and endoanal ultrasound (performed with a 10 MHz endoprobe), either conventionally or with an injection of hydrogen peroxide, were performed in 26 consecutive patients.

FSH in the treatment of oligozoospermia.

The aim of this study was to individuate parameters able to distinguish oligozoospermic subjects who will respond to follicle-stimulating hormone (FSH) therapy. A group of 135 oligozoospermic subjects was divided in three groups considering basal FSH and inhibin B concentrations: group A (normal FSH and inhibin B) characterized by moderate hypospermatogenesis sometimes associated to partial spermatidic arrest; group B (high FSH and normal inhibin B) characterized by hypospermatogenesis associated or not to spermatogonial/spermatocytic arrest; group C (high FSH and low inhibin B) characterized by severe hypospermatogenesis. Seventy-eight patients were treated with FSH at the dose of 75 IU on alternate days while 57 were treated with the same dose every day for 3 months.

Reduced expression and altered subcellular localization of the cyclin-dependent kinase inhibitor p27(Kip1) in human colon cancer.

The p27(Kip1) protein is a negative regulator of the cell cycle and a potential tumor suppressor gene. Reduced expression of the p27(Kip1) protein has been reported in several human tumors and has been associated with higher tumor grade and increased mortality in breast, lung, colon, prostate, bladder, and gastric cancers. On the other hand, increased expression of the p27(Kip1) protein, in the absence of gene mutation, has been observed in primary colon and breast cancers.

Identification of functional binding sites for progesterone in rat Leydig cell plasma membrane.

Steroid hormones influence cell functions by binding to intracellular receptors and then acting within the nucleus. There is now evidence that steroids affect cell functions also via interaction with plasma membrane receptors in a number of different cell types. In this regard, progesterone appears to be one of the most active steroids.

Accurate lymph-node detection in colorectal specimens resected for cancer is of prognostic significance.

Purpose: Lymph-node involvement is the most important prognostic factor in colorectal cancers. Many staging systems adopted node status as a parameter of tumor classification. However, the number of identified and positive glands varies across articles, depending on specimen examination.