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> Disorders > Congenital Abnormality > Cryptorchidism

Cryptorchidism

Cryptorchidism is a medical condition characterized by the failure of one or both testicles to descend into the scrotum.
This can occur during fetal development or in early childhood.
Cryptorchidism is a common genital abnormality and can lead to complications such as infertility if left untreated.
Proper diagnosis and timley treatment, often involving surgical intervention, are crucial for managing this condition and preserving testicular function.
Researhers can leverage PubCompare.ai's AI-powered platform to optimize their studies on cryptorchidism, accessing the best protocols and products from literature, preprints, and patents to improve reproducibility and accuracy.

Most cited protocols related to «Cryptorchidism»

1
Longitudinal Study of Child Health
Five priority outcomes are: 1) reproduction and pregnancy complications (e.g. abnormal pregnancies, premature birth, unbalanced sex ratio, and miscarriage), 2) congenital anomalies (ventricular septal defects, hypospadias, undescended testis, cleft lip/cleft palate, and chromosomal anomalies), 3) neuropsychiatric disorders (autism spectrum disorders, learning disorders, and attention-deficit hyperactivity disorder), 4) allergies and immune system deficiencies (asthma, atopic dermatitis, and food allergies), 5) metabolism and endocrine system disorders (impaired glucose tolerance, obesity, impact on reproductive organs, impaired genital formations, and sexual differentiation disorder). However, hundred thousand is not enough to analyze the association between environmental exposures and cancers. JECS collects cancer information in order to contribute future international pooled analysis, e.g. International Childhood Cancer Cohort Consortium (I4C) [6 (link)].
From the JECS cohort, a sub-cohort with the size of 5,000 will be extracted. In that sub-cohort extended outcome measurements are planned, for instance, clinical analysis of blood samples from children; face to face interviews by medical staffs to evaluate neurological development; and medical examination.
Kawamoto T., Nitta H., Murata K., Toda E., Tsukamoto N., Hasegawa M., Yamagata Z., Kayama F., Kishi R., Ohya Y., Saito H., Sago H., Okuyama M., Ogata T., Yokoya S., Koresawa Y., Shibata Y., Nakayama S., Michikawa T., Takeuchi A, & Satoh H. (2014). Rationale and study design of the Japan environment and children’s study (JECS). BMC Public Health, 14, 25.
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Publication 2014
Anabolism Asthma Autism Spectrum Disorders Child Cleft Palate Congenital Abnormality Cryptorchidism Disorder, Attention Deficit-Hyperactivity Disorder, Chromosomal Eczema Endocrine System Diseases Environmental Exposure Face Food Allergy Genitalia Hematologic Tests Hypersensitivity Hypospadias Intolerances, Glucose Learning Disorders Lips, Cleft Malignant Neoplasms Medical Staff Metabolism Obesity Palate Pregnancy Pregnancy Complications Premature Birth Reproduction Sex Differentiation Disorders Spontaneous Abortion System, Immune Ventricular Septal Defects
2
Chapaevsk Boys' Growth, Maturation, and Toxin Exposure
From 2579 boys, aged 10–16 years in 1999, enrolled in an earlier pilot study to generate growth and maturation curves for boys in Chapaevsk [13 ], a subset of 246 older boys (14.0 to 16.9 years) were identified for a sub-study in which blood samples and questionnaire information were obtained. Older boys were chosen for study because blood samples were required and participation rates were expected to be higher than among younger children. Of the 246 boys, 221 had blood samples collected, and of these samples, 30 bloods were initially sent to the CDC for chemical analysis of dioxins, furans and PCBs. By design, of the 30 blood samples, 15 were from children with cryptorchidism or hypospadias, and 15 were from children with neither condition (controls). The selection of the 15 cases and 15 controls was done blindly in relation to factors that may predict dioxin levels.
Each of the 30 boys, with his mother, was asked to complete a nurse-administered detailed questionnaire on medical history, diet, and lifestyle. The diet questions were used to measure the current and lifetime consumption of locally grown or raised foods. The question was worded, "Does your child eat any of the following foods from local sources (i.e. your own garden or farms or lakes in the Chapaevsk area)? Yes/No". There were separate questions for current intake and lifetime intake of each food item. The distances the boys lived from the Khimprom factory at the time of the study and during pregnancy were assessed by questionnaire based on maternal self-report as <2, 2–6, or >6 kilometers, and the distance at the time of the study was also estimated using ArcView GIS 3.0 mapping of addresses.
Hauser R., Williams P., Altshul L., Korrick S., Peeples L., Patterson DG J.r., Turner W.E., Lee M.M., Revich B, & Sergeyev O. (2005). Predictors of serum dioxin levels among adolescent boys in Chapaevsk, Russia: A cross-sectional pilot study. Environmental Health, 4, 8.
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Publication 2005
BLOOD Boys Child Cryptorchidism Diet Dioxins Eating Food Furans Hypospadias Mothers Nurses Polychlorinated Biphenyls Pregnancy Tetrachlorodibenzodioxin Youth
3
Anogenital Distance Measurement Techniques
In rodents, AGD is measured from the anus to the posterior base of the genital tubercle (Gallavan et al., 1999 ). In contrast to rodents, the external genitalia are well developed at birth in humans with the genital tubercle transformed into the penis in males and clitoris in females. Investigators have used different landmarks to measure AGD in humans to replicate the measurement in rodents. In males, AGD has been measured from the anus to the perineoscrotal junction (anoscrotal distance) (Salazar-Martinez et al., 2004 (link)), to the posterior base or to the anterior base of the penis (Hsieh et al., 2008 ) (Fig.1). Measurements in females use the distance from the anus to the anterior fourchette (anofourchettal distance) (Salazar-Martinez et al., 2004 (link)) or to the base of the clitoris (anoclitoral distance) (Liu et al., 2014 (link)). The method described by Salazar-Martinez et al. is commonly used; it is more reliable and has a lower inter-observer variability (Dean and Sharpe, 2013 (link); Papadopoulou et al., 2013 (link); Salazar-Martinez et al., 2004 (link)). In this review, the term AGD describes ‘anoscrotal distance’ in males and ‘anofourchettal distance’ in females unless otherwise stated (Salazar-Martinez et al., 2004 (link)). Although AGD has been widely used as a marker of potential endocrine disruption in utero, its limitations include a lack of standardisation of methodology and information on reproducibility (Table-1) and insufficient data on normative references, including ethnic differences (Dean and Sharpe, 2013 (link)). AGD is associated with birth weight to a varying degree depending on the population studied (regression coefficient adjusted for gestation ranges from 1.5 to 3.0 mm/kg) (Papadopoulou et al., 2013 (link); Romano-Riquer et al., 2007 ; Salazar-Martinez et al., 2004 (link)) and there is no consensus for adjusting AGD for the variations in body size. In addition, low birth weight is itself a risk factor for TDS as it is associated with hypospadias, cryptorchidism, male infertility and TGCC (Francois et al., 1997 (link); Juul et al., 2014 (link); Michos et al., 2007 (link); Toppari et al., 2010 (link)).
Thankamony A., Pasterski V., Ong K.K., Acerini C.L, & Hughes I.A. (2016). Anogenital distance as a marker of androgen exposure in humans. Andrology, 4(4), 616-625.
Publication 2016
Anus Birth Weight Body Size Childbirth Clitoris Cryptorchidism factor A Females Genitalia Homo sapiens Hypospadias Male Infertility Males Penis Pregnancy Rodent System, Endocrine Uterus Vulva
4
Multicenter Study of Testicular Germ Cell Tumors
A multicenter prospective case-control study was conducted between January 2015 and April 2018 in 20 out of the 23 university hospital centers in Metropolitan France. The study protocol has been described previously [22 ]. Briefly, the study included patients diagnosed with primary GCNIS-related TGCT, aged 18 to 45 years, and referred for semen preservation prior to TGCT treatment to the regional sperm banks located in the university hospitals affiliated with the French national network of study and preservation centers for eggs and semen (Fédération Française des Centres d’étude et de conservation des oeufs et du sperme, CECOS). Recruitment of TGCT cases had to have been performed within 12 months of diagnosis. Two groups of controls, with no personal history of testicular cancer or cryptorchidism as it may be associated with higher risk of TGCT occurrence, were recruited and frequency-matched to cases on year of birth (+/− 3 years) and hospital center. Group A controls were sperm donors and partners of women consulting for fertility disorders, with normal sperm production (total count ≥39 M sperm cells per ejaculate) and recruited in CECOS and in assisted reproduction treatment (ART) centers respectively. Group B controls were partners of women treated for a pathological pregnancy in specialized maternity clinics equipped with maternal and neonatal intensive care units, adjacent to hospital centers. Referral and recruitment of cases and both groups of controls were regional. Participants born in Metropolitan France were eligible.
After written consent, participants received a handout to prepare for the interview. In addition, they were asked to provide written permission to contact their biological mother or the closest relative in case the mother was not available. Trained investigators (IPSOS Company) conducted a 90-min telephone interview with the participants, blinded to the case-control status, and using a structured, pretested and computer assisted questionnaire [23 (link)]. Upon agreement of the participant, the mother/relative was invited to participate in the study by telephone interview, using the same procedures as for the participants.
Data collected from participants included residential history from birth onwards, lifetime occupational history, including workplace addresses and information on specific exposures for each job (pesticides, solvents, metals and welding fumes, and plastic), socio-economic status, birth characteristics, medical history and lifestyle factors (smoking status and drug use). Participants’ mothers/relatives who consented to participate provided similar information as well as additional data covering pregnancy and postnatal periods (treatments, age, morphology, breastfeeding), and reported the occupational history of the father from 1 year before conception to when the son turned 17 years old. Moreover, the questionnaire comprised items related to domestic use of pesticides, by participants at puberty and young adulthood, and by mothers from 1 year before start of pregnancy to 1 year after the son’s birth and at puberty. Sixty percent (N = 698) of the participants provided two blood specimens at inclusion that have been frozen and stored for latter analysis.
Both participants and mothers/relatives provided written informed consent prior to entry in the study. Participants were compensated for answering the questionnaire (20€ in gift voucher) and providing blood samples (additional 20€). The study received ethical approval from the French Ethics Committee (ref. no. A14–94), the French national agency for medicines and health products safety (ref. no. 140184B-12) and the IARC Ethics Committee (ref. no. 14–26), and was declared to the Commission nationale Informatique et Libertés (MR-001, ref. no. 2016–177).
Danjou A.M., Pérol O., Coste A., Faure E., Béranger R., Boyle H., Belladame E., Grassot L., Dubuis M., Spinosi J., Bouaoun L., Fléchon A., Bujan L., Drouineaud V., Eustache F., Berthaut I., Perrin J., Brugnon F., Charbotel B., Schüz J, & Fervers B. (2021). Domestic use of pesticides during early periods of development and risk of testicular germ cell tumors in adulthood: a French nationwide case-control study. Environmental Health, 20, 111.
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Publication 2021
Biologic Preservation Biopharmaceuticals BLOOD Childbirth Conception Cryptorchidism Diagnosis Donors Eggs Ethics Committees Fertility Freezing Metals Mothers Patients Pesticides Pharmaceutical Preparations Plant Embryos Pregnancy Puberty Safety Semen Preservation Solvents Sperm Testicular Cancer Testicular Germ Cell Tumor Woman
5
Testicular Germ Cell Tumor Study
Overall, 1463 eligible subjects have been invited to participate in the study, among which 1367 (93.4%) agreed to participate: 550 TGCT cases, 447 group A and 370 group B controls. Among the total 96 subjects that refused to participate, the most frequent reasons for non-participation were lack of interest in the study (n = 32; 33%), no wish to participate (n = 27; 28%), or lack of availability (n = 20; 21%) (Figure S1). The proportion of men aged 25 years or younger was higher in the non-participants than in the participants (29% versus 11%), while the proportion of men aged 31–35 years old was higher in the participants than in the non-participants (33% versus 21%). In the non-participating men, the proportion of employment in intermediate occupations was higher and the proportion of “not professionally active” was lower than among the eligible subjects that agreed to participate in the study (23% versus 11, and 18% versus 56%, respectively, data not shown). Among the 1367 enrolled men, 853 (62%) agreed to contact their mothers and finally 640 mothers/relatives agreed to participate. Of the subjects that agreed to participate, 44 participants were excluded for not meeting inclusion criteria: N = 25 cases were not confirmed by pathology reports (N = 21 non GCNIS-related TGCT; N = 4 with absence of a tumor); N = 5 confirmed GCNIS-related TGCT with time from diagnosis to study inclusion > 12 months (N = 4) or with missing date of diagnosis (N = 1); N = 1 group B control not born in Metropolitan France; and N = 13 controls (8 group A and 5 group B) who reported personal history of cryptorchidism. Among eligible subjects (N = 1323), 168 did not complete the telephone interview and were excluded (N = 48 TGCT cases, N = 46 group A controls and N = 74 group B controls); reasons for this included refusal (N = 44), unreachable subjects after three telephone calls (N = 123) and 1 person who passed away prior to interview (Figure S1).
A total of 1124 participants completed the interview, as well as 31 participants’ mothers for whom their son was not interviewed (N = 1155). The study population was composed of participants for whom mothers/relatives had completed the interview, and finally included 570 participants’ mothers and 8 participants’ relatives (N = 578, 50% participation): 304 TGCT cases − 144 SE (47%) and 132 NS (43%)–, 145 group A controls and 129 group B controls.
Danjou A.M., Pérol O., Coste A., Faure E., Béranger R., Boyle H., Belladame E., Grassot L., Dubuis M., Spinosi J., Bouaoun L., Fléchon A., Bujan L., Drouineaud V., Eustache F., Berthaut I., Perrin J., Brugnon F., Charbotel B., Schüz J, & Fervers B. (2021). Domestic use of pesticides during early periods of development and risk of testicular germ cell tumors in adulthood: a French nationwide case-control study. Environmental Health, 20, 111.
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Publication 2021
Childbirth Cryptorchidism Diagnosis Mothers Neoplasms Testicular Germ Cell Tumor Youth

Most recents protocols related to «Cryptorchidism»

1
Genital Anomalies in ICSI Newborns
This cross-sectional study was performed at Royan Institute, Tehran, Iran from April 2013-December 2015. After registering the ICSI cycles in Hakim's software system at Royan Institute, data regarding pregnancies were investigated, and all live births were monitored and followed retrospectively. The ICSI cycles and embryo transfer procedure were performed with standard protocols at Royan Institute. We collected the data regarding the cause of infertility and type of embryo transfer from participants' records. The characteristics of newborns were also collected and recorded from the follow-up clinic. Gestational age was determined as 14 days before oocyte pick-up until delivery. To exclude outliers, only children with gestational ages between 22 and 44 wk and birth weight between 400 and 7000 gr were included. Preterm birth was considered as delivery before 37 completed weeks of gestation. Low-birth weight (LBW) was defined as 2500 gr and very LBW as 1500 gr (18).
All children were assessed at birth by neonatologists and the premature infants were reevaluated at the expected date of delivery. The diagnosis of the genital anomaly was determined on the basis of the clinical examination at the expected date of delivery. Sonography was performed if the anomaly was not diagnosed by a physical exam. A diagnosis of hypospadias was made as a failure of fusion of the urethra was observed, and the urethral meatus was ectopically located. Cryptorchidism could not be diagnosed if the testis was in the inguinal canal or not palpable. Testis in a high scrotal position was not considered to be cryptorchidism (19). Micropenis was described as a penis 2.5 standard deviations (SD) smaller than the mean for the child's age and race. It was diagnosed by observing a stretched penis length of less than 1.9 centimeters at birth. Testicular regression syndrome or vanishing testis is reported to be due to the subsequent atrophy and disappearance in the fetal life of an initially normal testis, and its diagnosis is confirmed by surgery (20). Epispadias was defined by observing the opening of the urethra in the back of the penis (19).
Aliani F., Haghshenas Z., Vosough Dizaj A., Arabipoor A., Vesali S, & Ashrafi M. (2023). Birth prevalence of genital anomalies among males conceived by intracytoplasmic sperm injection cycles: A cross-sectional study. International Journal of Reproductive Biomedicine, 21(1), 53-60.
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Publication 2023
Atrophy Birth Birth Weight Care, Prenatal Child Cryptorchidism Diagnosis Epispadias Genitalia Gestational Age Hypospadias Infant, Newborn Infant, Very Low Birth Weight Inguinal Canal Neonatologists Obstetric Delivery Only Child Oocytes Operative Surgical Procedures Penis Penis agenesis Physical Examination Pregnancy Premature Birth Preterm Infant Scrotum Sperm Injections, Intracytoplasmic Sterility, Reproductive Testicular regression syndrome Testis Transfers, Embryo Ultrasonography Urethra
2
Clinically Defined IHH Cohort with SOX2 Disorder
The Massachusetts General Hospital IHH cohort consisted of a total of 1,453 IHH (KS and nIHH) patients enrolled in a research study within the Massachusetts General Hospital (MGH) Harvard Center for Reproductive Medicine. This cohort was clinically defined by (i) absent or incomplete puberty by age 18 years, (ii) serum testosterone < 100 ng/dL in men or estradiol < 20 pg/mL in women with low or normal levels of serum gonadotropins, (iii) otherwise normal anterior pituitary function, (iv) normal serum ferritin concentrations, and (v) normal MRI of the hypothalamic-pituitary region (4 (link)). These stringent clinical criteria allowed us to infer a hypothalamic site defect in these patients. In addition, since hypothalamic GnRH deficiency is often intertwined with olfactory dysfunction (KS form of IHH), both self-reported olfaction as well as University of Pennsylvania Smell Identification Test scores were used to classify patients as either KS (when olfaction was abnormal: anosmia/hyposmia) or nIHH (normal smell) (48 (link), 49 (link)). For male patients who were evaluated at prepubertal age, other signs of neonatal hypogonadism were evaluated, including hypospadias, micropenis, and cryptorchidism. Clinical charts and patient questionnaires were reviewed for phenotypic evaluation for both reproductive and nonreproductive phenotypes.
The diagnosis of SOX2 disorder was established in IHH probands in whom molecular genetic testing identified a heterozygous intragenic SOX2 pathogenic variant, a deletion that is intragenic, or a deletion of 3q26.33 involving SOX2 (1 ). Eye defects were classified as severe or mild as previously described (3 (link)). Severe eye defects were defined as bilateral ocular malformations including anophthalmia and microphthalmia. Mild eye defects were defined as unilateral anophthalmia or microphthalmia, coloboma, optic nerve hypoplasia/aplasia, strabismus, hypertelorism, nystagmus, small palpebral fissures, and myopia. Patients were evaluated for other nonocular features that have been associated with the syndrome, including neurocognitive developmental delay, seizures, hearing loss, and esophageal abnormalities, as well as genital anomalies including hypospadias, micropenis, and cryptorchidism. Patients’ pituitary function was assessed by detailed laboratory evaluation of all pituitary hormones, including thyroid-stimulating hormone, free thyroxine, prolactin, IGF1, adrenocorticotropic hormone, and morning cortisol, and pituitary anatomy was evaluated with pituitary MRIs.
Cassin J., Stamou M.I., Keefe K.W., Sung K.E., Bojo C.C., Tonsfeldt K.J., Rojas R.A., Ferreira Lopes V., Plummer L., Salnikov K.B., Keefe DL J.r., Ozata M., Genel M., Georgopoulos N.A., Hall J.E., Crowley WF J.r., Seminara S.B., Mellon P.L, & Balasubramanian R. (2023). Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms. JCI Insight, 8(3), e164324.
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Publication 2023
Anophthalmos Coloboma Congenital Abnormality Corticotropin Cryptorchidism Deletion Mutation Diagnosis Estradiol Eyelids Ferritin Genitalia Gonadorelin Gonadotropins Hearing Impairment Heterozygote Hydrocortisone Hypogonadism Hyposmia Hypospadias Hypothalamus IGF1 protein, human Infant, Newborn Magnetic Resonance Imaging Males Microphthalmos Myopia Optic Nerve Hypoplasia pathogenesis Pathologic Nystagmus Patients Penis agenesis Phenotype Pituitary Hormones Pituitary Hormones, Anterior Prolactin Puberty Reproduction Seizures Sense of Smell Serum SOX2 protein, human Strabismus Syndrome Testosterone Thyrotropin Thyroxine Vision Woman
3
Fertility Preservation in Prepubertal Boys
Testicular tissue samples and clinical data from prepubertal boys aged up to 14 years, who participated in fertility preservation programmes prior to chemo-/radiotherapy treatment at Amsterdam UMC (AUMC) between 2011 and 2018 and Universitair Ziekenhuis Brussel (UZB) between 2002 and 2017 were included. The older boys in our cohort were offered testicular tissue cryopreservation, because they could not produce an ejaculate. At AUMC, prepubertal boys were offered fertility preservation before the initiation of known gonadotoxic therapy, irrespective of the infertility risk. At UZB, only children at high risk for infertility (above 80%), which was estimated based on the selected treatment, were included in the fertility preservation programme. Prepubertal patients considered to be at high risk of infertility include the ones receiving high-dose alkylating and platinum-based agents, total body irradiation, or testicular radiotherapy, yet the criteria are not strictly established (Goossens et al., 2020 (link); Delgouffe et al., 2022 ).
At both centers, children with a history of testicular torsion or cryptorchidism or with testicular malignancies were excluded from the fertility preservation programmes. Testicular malignancies were excluded because of the risk of reintroducing cancer cells during auto-transplantation of the testicular biopsy and because testicular malignancies are known to negatively affect gonadal function (Petersen et al., 1998 (link)) and can possibly negatively affect future fertility treatment. Patients diagnosed with Klinefelter syndrome were also excluded from this study.
Masliukaite I., Ntemou E., Feijen E.A., van de Wetering M., Meissner A., Soufan A.T., Repping S., Kremer L.M., Jahnukainen K., Goossens E, & van Pelt A.M. (2023). Childhood cancer and hematological disorders negatively affect spermatogonial quantity at diagnosis: a retrospective study of a male fertility preservation cohort. Human Reproduction (Oxford, England), 38(3), 359-370.
Publication 2023
Biopsy Boys Cells Child Cryopreservation Cryptorchidism Fertility Fertility Preservation Gonads Klinefelter Syndrome Malignant Neoplasms Only Child Patients Platinum Radiotherapy Spermatic Cord Torsion Sterility, Reproductive Testicular Cancer Testis Tissues Transplantation Whole-Body Irradiation
4
Simulating Control Data for Prepubertal Boys
Considering we could not collect S/T data from healthy prepubertal boys as controls for ethical reasons, we simulated control S/T values (n = 310) using the summary statistics (age group range and the number of subjects, and S/T mean and SD) from original studies (Hedinger, 1982 (link); Paniagua and Nistal, 1984 (link); Hadziselimovic et al., 1987 (link); Cinti et al., 1993 (link)) that were selected in a systematic literature review and meta-analysis (Masliukaite et al., 2016 (link)) as reporting spermatogonial quantity throughout healthy prepuberty (thus excluding children with cryptorchidism, testicular tumors, or other health conditions that might influence spermatogenesis).
Control data simulations were performed in R (i386 3.5.1; R Foundation for Statistical Computing, Vienna, Austria) using general functions and the ‘truncnorm’ package. ‘Truncnorm’ creates a requested spreading of subjects to fit the original study mean and SD per each age group (Supplementary Data File S1). In this way, even though we could not obtain the original datasets, we created a simulated dataset with the same summary statistics for each parameter of interest (spermatogonial quantity, TFI, and testicular volume) from each original study. We then pooled the simulated data from different studies together to form a control dataset (model). To account for model uncertainty, data simulation was repeated to create five independent control datasets (models): each having different subject distribution within the SD. To validate the models, we plotted these simulated controls of spermatogonial quantity against the regression fit with 95% CI from meta-analysis (Masliukaite et al., 2016 (link)) and indicated the four age groups used in this study (Supplementary Fig. S1). When performing statistical analysis, a statistical significance was only considered when the difference between samples and controls was significant within at least 4 out of 5 control models. If the observed significant difference was repeated in the majority of models, the likelihood of such significant difference in the original dataset was regarded as highly likely.
Similarly, we simulated testicular volume control values based on data available from healthy Dutch boys (Goede et al., 2011 ; Joustra et al., 2015 (link)) and TFI control values based on summary statistics in boys without known health conditions affecting testes histology (Farrington, 1969 (link); Paniagua and Nistal, 1984 (link)).
Finally, control data on germ cell differentiation were based on a descriptive study of healthy prepubertal boys’ autopsies, excluding cases with testicular or endocrine pathologies or samples with complete spermatogenesis (Nistal and Paniagua, 1984 (link)), with no data simulation.
Masliukaite I., Ntemou E., Feijen E.A., van de Wetering M., Meissner A., Soufan A.T., Repping S., Kremer L.M., Jahnukainen K., Goossens E, & van Pelt A.M. (2023). Childhood cancer and hematological disorders negatively affect spermatogonial quantity at diagnosis: a retrospective study of a male fertility preservation cohort. Human Reproduction (Oxford, England), 38(3), 359-370.
Publication 2023
Age Groups Autopsy Boys Child Cryptorchidism Germ Cells Spermatogenesis Spermatogonia System, Endocrine Testicular Neoplasms Testis
5
Genetic Disorders Underlying Disorders of Sex Development
In total, 35 unrelated patients were recruited from Shengjing Hospital of China Medical University, all patients came for consultation because of disorder of sex development (DSD) (Table S1). In family 1, the proband (patient 1) manifested as small penis, cryptorchidism, and testicular dysplasia. In family 2, the proband (patient 2) phenotyped as small penis and testicular dysplasia. In family 3, the proband (patient 3) and his nephew showed cryptorchidism, left renal agenesis, and olfactory disorder. In family 4, the proband (patient 4) manifested as small penis, olfactory disorder, testicular dysplasia and polydactylism. In family 5, the proband (patient 5) phenotyped as cryptorchidism and testicular dysplasia.
Chu G., Li P., Zhao Q., He R, & Zhao Y. (2023). Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1. Reproductive Biology and Endocrinology : RB&E, 21, 23.
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Publication 2023
Cryptorchidism Disorders of Sex Development Patients Penis Polydactyly Renal Adysplasia Sense of Smell Testis

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More about "Cryptorchidism"

Cryptorchidism, also known as undescended testis or testicular maldescent, is a medical condition characterized by the failure of one or both testes to descend into the scrotum during fetal development or in early childhood.
This common genital abnormality can have serious implications, including infertility, if left untreated.
Proper diagnosis and timely treatment, often involving surgical intervention like orchiopexy, are crucial for managing cryptorchidism and preserving testicular function.
Researchers can leverage AI-powered platforms like PubCompare.ai to optimize their studies on this condition, accessing the best protocols and products from literature, preprints, and patents to improve reproducibility and accuracy.
Cryptorchidism can be diagnosed using various techniques, such as physical examination, imaging studies (e.g., ultrasound, MRI), and hormonal tests.
Treatment options may include watchful waiting, hormonal therapy, or surgical procedures like orchiopexy to relocate the undescended testis to the scrotum.
The underlying causes of cryptorchidism can be multifactorial, involving genetic and environmental factors.
Researchers may utilize tools like SPSS version 17.0, Human Genome U133 Plus 2.0 Array, RNAlater, and EndNote vX7.1 to study the molecular mechanisms and genetic associations of this condition.
Additionally, treatments like Ethanol-sesame oil, Ad-GFP, and the Web‐Based PCR Array Data Analysis system may be explored to develop new therapeutic approaches.
Proper sample preparation, using products like RNAlater solution and Trypsin, can also be crucial for accurate research on cryptorchidism.
By leveraging the latest technologies and optimizing their research processes, scientists can advance our understanding of cryptorchidism and develop more effective strategies for its prevention, diagnosis, and treatment.