Cryptorchid

BACKGROUND: The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia. CASE PRESENTATION: We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS...

Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%)...

Cryptorchidism affects spermatogenesis and testis development, often resulting in stallion subfertility/infertility. This study aims to identify the specific germ cells impacted by cryptorchism in stallions. In a previous study, we found that PGP9.5 and VASA are molecular markers expressed in different germ cells within stallions. Herein, we assessed the heat stress-induced response of spermatogonial stem cells (SSCs) in the seminiferous tubules (ST) of cryptorchid stallion testes (CST) and normal stallion testes (NST)...

Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile myelomonocytic leukemia and vasculitis. Other features of the disorder include cardiac defects, postnatal growth delay, cryptorchidism, facial dysmorphisms, and predisposition to develop autoimmune disorders...

This study evaluates a new multiport device with single access to the abdominal cavity produced with routine hospital supplies that could be applied to laparoscopically assisted cryptorchidectomy in standing horses. Initially, the new device was evaluated on five cadavers of bovine fetuses ( n = 5), placed assisted in a minilaparotomy performed in the flank region. Subsequently, the device was evaluated in four cryptorchid horses treated during the hospital routine. During the evaluation of the new device, the possibilities of exploring the abdominal cavity, inspection, and intra-abdominal manipulation with two Babcock forceps were verified...

Objectives: Intra-abdominal testes are located in a variety of intra-abdominal positions, most less than 2 cm from the internal ring. Various surgical techniques of laparoscopic orchiopexy have been described to date. The aim of this study was to evaluate the safety and long-term efficacy of a single-stage, vessel-preserving, laparoscopic orchiopexy for intra-abdominal testes in pediatric patients. Methods: A retrospective search of the medical records of 32 children (34 testes) who underwent single-stage, vessel preserving, laparoscopic orchiopexy for intra-abdominal testes between 1 January 2014 and 31 December 2023 was performed...

Cryptorchidism is defined as the extra-scrotal position of the testes. It is a common disorder in male children, but rarely in adult patients. The association of cryptorchidism with hernia is a common finding in childhood, but is not frequent in adults or the elderly. Herein, we report a series of three cases (28-, 24-, and 34-year-old men) of adult inguinal hernia combined with cryptorchidism successfully managed by laparoscopic surgery under the same operative view. Laparoscopic transabdominal preperitoneal repair and orchiectomy were performed in all patients...

Canine leishmaniosis (CanL), caused by Leishmania infantum, is a complex disease of growing importance in Europe. Clinical manifestations result from the down-modulation of the host immune response through multiple host-parasite interactions. Although several factors might influence CanL progression, this is the first known study evaluating risk factors for its different clinical stages in a large referral hospital population (n=35.669) from an endemic area, over a 20 year period. Genome-wide scans for selection signatures were also conducted to explore the genomic component of clinical susceptibility to L...

Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory support. Respiratory syncytial virus test was positive...

FOXP1 encodes a transcription factor involved in tissue regulation and cell-type-specific functions. Haploinsufficiency of FOXP1 is associated with a neurodevelopmental disorder: autosomal dominant mental retardation with language impairment with or without autistic features. More recently, heterozygous FOXP1 variants have also been shown to cause a variety of structural birth defects including central nervous system (CNS) anomalies, congenital heart defects, congenital anomalies of the kidney and urinary tract, cryptorchidism, and hypospadias...

OBJECTIVE: This study retrospectively analyzes the clinical data of 18 children with 45,X/46,XY differences of sex development (DSD), summarizes their clinical features and explores gonadal and Müllerian duct remnants surgical treatment methods. METHODS: The clinical data of 18 children with karyotype 45,X/46,XY diagnosed in the Department of Urology of Hunan Children's Hospital from March 2011 to October 2021 were collected. All children underwent HCG stimulation testing, laparoscopic exploration, urethroscopy and bilateral gonadal biopsy...

Cryptorchidism (CO) or undescended testes is defined as the failure of one or both testes to be positioned inside the scrotum. Typically, cryptorchidism is detected at birth or shortly thereafter, and in humans, it is considered to be part of the testicular dysgenesis syndrome (TDS), a complex pathology regarding the male reproductive system that apparently involves the interaction of both genetic and environmental harmful factors, mainly during embryonic development. Serotonin (5-HT) is an ancient molecule that participates in a broad range of body functions, and in recent years, its importance in reproduction has started to be elucidated...

Cryptorchidism is the condition in which one or both testes have not descended adequately into the scrotum. The congenital form of cryptorchidism is one of the most prevalent urogenital anomalies in male newborns. In the acquired form of cryptorchidism, the testis that was previously descended normally is no longer located in the scrotum. Cryptorchidism is associated with an increased risk of infertility and testicular germ cell tumors. However, data on pubertal progression are less well-established because of the limited number of studies...

Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range...

Splenogonadal fusion is a rare, benign congenital malformation characterized by the association of splenic tissue and gonads (typically testicles). It is a condition of male predominance and can be classified into two types: continuous, if the spleen and gonad are united by a splenic cord or fibrous tissue, or discontinuous. Splenogonadal fusion is often associated with other congenital anomalies such as cryptorchidism, limb defects, and micrognathia. Differential diagnosis can be difficult and includes inguinal hernia, spermatic cord cyst, cryptorchidism, or testicular mass...

Successful male reproduction depends on healthy testes. Autophagy has been confirmed to be active during many cellular events associated with the testes. It is not only crucial for testicular spermatogenesis but is also an essential regulatory mechanism for Sertoli cell (SCs) ectoplasmic specialization integrity and normal function of the blood-testis-barrier. Hypoxic stress induces oxidative damage, apoptosis, and autophagy, negatively affecting the male reproductive system. Cryptorchidism is a common condition associated with infertility...

Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear...

Cryptorchidism presents with an incidence of 1-5% with potential long-term implications on future fertility and overall health. This review focuses on surgical treatment modalities, their impact on testicular development, and function while addressing the Nordic consensus statement as well as current European Association of Urology (EAU) and American Urological Association (AUA) guidelines. Congenital and acquired cryptorchidism present distinctive challenges in surgical management, with different implications for fertility...

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BACKGROUND: Testicular volume is a marker of male pubertal development. Various clinical conditions and their treatments may influence testicular growth. OBJECTIVES: To create ruler-based age-dependent pubertal testicular volume references that enable calculation of standard deviation (SD) scores. MATERIALS AND METHODS: Study cohort comprised 65 boys who attended clinical examination twice a year from the age of 8.5 years until the attainment of final testicular size...