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Cryptorchidism

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https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#1
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28505621/gnrha-treatment-of-cryptorchid-boys-affects-genes-involved-in-hormonal-control-of-the-hpg-axis-and-fertility
#2
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid boys presenting with defective mini-puberty. However, the molecular events governing this effect are not understood. We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis...
May 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#3
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28495418/structural-study-of-the-cremaster-muscle-in-patients-with-retractile-testis
#4
Luciano A Favorito, Kleber M Anderson, Suelen F Costa, Waldemar S Costa, Francisco Jb Sampaio
OBJECTIVE: To analyze the structure of the cremaster in patients with retractile testis (RT), comparing the distribution of nerves, elastic system and muscles with patients having cryptorchidism and inguinal hernia (IH). PATIENTS AND METHODS: We studied 31 patients, 17 with RT (mean age=5.17years); 9 with IH (mean age=2.6) and 5 with cryptorchidism (mean age=3). A cremaster biopsy was performed and submitted to routine histological processing and studied using histochemistry and immunohistochemistry...
April 28, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28493163/a-comparison-between-totally-laparoscopic-hydrocelectomy-and-scrotal-incision-hydrocelectomy-with-laparoscopic-high-ligation-for-pediatric-cord-hydrocele
#5
Byung Seo Choi, Geon Young Byun, Seong Bae Hwang, Bum Hwan Koo, Sung Ryul Lee
BACKGROUND: The purpose of this study is to report clinical characteristics and to investigate the feasibility and safety of totally laparoscopic hydrocelectomy (TLH) compared to scrotal incision hydrocelectomy with laparoscopic high ligation (SIH) for pediatric cord hydrocele (CH). METHODS: From September 2011 to February 2016, 148 patients underwent SIH, and 342 patients underwent TLH for CH. In the TLH group, a large hydrocele that could not pass through the internal ring was removed after percutaneous syringe aspiration...
May 10, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28487784/respiratory-failure-due-to-severe-obesity-and-kyphoscoliosis-in-a-24-year-old-male-with-molecularly-confirmed-prader-willi-syndrome-in-tertiary-hospital-in-northern-tanzania
#6
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28479404/association-of-reproductive-disorders-and-male-congenital-anomalies-with-environmental-exposure-to-endocrine-active-pesticides
#7
Jessica García, María I Ventura, Mar Requena, Antonio F Hernández, Tesifón Parrón, Raquel Alarcón
There is growing evidence that environmental exposure to pesticides may increase the risk of developing reproductive and developmental disorders. This study determined the prevalence and risk of developing gestational disorders and male congenital genitourinary malformations in areas with distinct exposure to pesticides, many of them with potential endocrine disrupting properties. A population-based case-control study was carried out on pregnant women and male children living in ten health districts of Andalusia classified as areas of high and low environmental exposure to pesticides according to agronomic criteria...
May 4, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#8
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28449295/kbg-syndrome-an-australian-experience
#9
Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28439006/murine-model-indicates-22q11-2-signaling-adaptor-crkl-is-a-dosage-sensitive-regulator-of-genitourinary-development
#10
Meade Haller, Qianxing Mo, Akira Imamoto, Dolores J Lamb
The spectrum of congenital anomalies affecting either the upper tract (kidneys and ureters) or lower tract (reproductive organs) of the genitourinary (GU) system are fundamentally linked by the developmental origin of multiple GU tissues, including the kidneys, gonads, and reproductive ductal systems: the intermediate mesoderm. Although ∼31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects, little focus has been placed on the molecular etiology of GU defects in this syndrome. Among del22q11.2 patients exhibiting GU anomalies, we have mapped the smallest relevant region to only five genes, including CRKLCRKL encodes a src-homology adaptor protein implicated in mediating tyrosine kinase signaling, and is expressed in the developing GU-tract in mice and humans...
May 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28434984/the-nonpalpable-testis-a-narrative-review
#11
REVIEW
Courtney L Shepard, Kate H Kraft
PURPOSE: While the nonpalpable testis represents only a small portion of all cryptorchid testes, it remains a clinical challenge for pediatric urologists. Many controversies about the best evaluation and management exist. This narrative review serves as an update on what is known about the nonpalpable testis: etiology, pre-operative evaluation, the best surgical management, novel techniques, and ongoing controversies. MATERIALS AND METHODS: A Pubmed® and MEDLINE® search limited to January 2000 to January 2017 was performed using relevant key terms...
April 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28432720/androgen-receptor-dysfunction-as-a-prevalent-manifestation-in-young-male-carriers-of-a-flna-gene-mutation
#12
Laura Carrera-García, Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García
Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the FLNA gene, is a co-activator of various cytoplasmic factors, including AR. The mutational inactivation of the FLNA gene induces insufficiency of translocation and activation of AR...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28408128/health-disparities-in-the-appropriate-management-of-cryptorchidism
#13
Kate B Savoie, Marielena Bachier-Rodriguez, Elleson Schurtz, Elizabeth A Tolley, Dana Giel, Alexander Feliz
OBJECTIVE: To assess regional practices in management of cryptorchidism with regard to timely fixation by the current recommended age of 18 months. STUDY DESIGN: A retrospective study was performed. Charts of all patients who underwent surgical correction for cryptorchidism by a pediatric general surgeon or urologist within a tertiary pediatric hospital in an urban setting were systematically reviewed. RESULTS: We identified 1209 patients with cryptorchidism...
April 10, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28403078/renal-dysplasia-characterized-by-prominent-cartilaginous-metaplasia-lesions-in-vacterl-association-a-case-report
#14
Takeo Nakaya, Taiju Hyuga, Yukichi Tanaka, Shina Kawai, Hideo Nakai, Toshiro Niki, Akira Tanaka
BACKGROUND: Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28402530/mutations-in-the-human-robo1-gene-in-pituitary-stalk-interruption-syndrome
#15
Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken McElreavey, Raja Brauner
Context: Pituitary stalk interruption syndrome (PSIS) is characterised by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases. Objective: To identify genetic causes of PSIS by exome sequencing...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28392474/novel-fsh%C3%AE-mutation-in-a-male-patient-with-isolated-fsh-deficiency-and-infertility
#16
Junjie Zheng, Jiangfeng Mao, Mingxuan Cui, Zhaoxiang Liu, Xi Wang, Shuyu Xiong, Min Nie, Xueyan Wu
Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHβ is an extremely rare autosomal recessive disease that has only been reported in ten patients to date. Symptoms of the disease include amenorrhoea and hypogonadism in women and azoospermia and normal testosterone levels in men. This study describes a Chinese male patient who presented with cryptorchidism and infertility. His serum hormonal profile revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis identified a novel homozygous mutation in the FSHβ gene (c...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28389750/the-role-of-heat-shock-factors-in-mammalian-spermatogenesis
#17
Wieslawa Widlak, Natalia Vydra
Heat shock transcription factors (HSFs), as regulators of heat shock proteins (HSPs) expression, are well known for their cytoprotective functions during cellular stress. They also play important yet less recognized roles in gametogenesis. All HSF family members are expressed during mammalian spermatogenesis, mainly in spermatocytes and round spermatids which are characterized by extensive chromatin remodeling. Different HSFs could cooperate to maintain proper spermatogenesis. Cooperation of HSF1 and HSF2 is especially well established since their double knockout results in meiosis arrest, spermatocyte apoptosis, and male infertility...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28383690/semen-quality-of-young-men-from-the-general-population-in-baltic-countries
#18
Juris Erenpreiss, Margus Punab, Birute Zilaitiene, Solveiga Hlevicka, Pawel Zayakin, Valentinas Matulevicius, Romualdas Tomas Preiksa, Niels Jørgensen
STUDY QUESTION: What are the parameters of semen quality in Baltic men? SUMMARY ANSWER: Combined parameters of sperm concentration, motility and morphology revealed that 11-15% of men had low semen quality, 37-50% intermediate and 38-52% high semen quality. WHAT IS KNOWN ALREADY: Previous studies have revealed regional differences in semen parameters, and semen quality of Baltic men has been suggested to be better than that of other European men...
June 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28371217/inherited-germline-atrx-mutation-in-two-brothers-with-atr-x-syndrome-and-osteosarcoma
#19
Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T Maglinte, Xiaowu Gai, Sulagna C Saitta, Jaclyn A Biegel, Leo Mascarenhas
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28352662/experimentally-induced-testicular-dysgenesis-syndrome-originates-in-the-masculinization-programming-window
#20
Sander van den Driesche, Karen R Kilcoyne, Ida Wagner, Diane Rebourcet, Ashley Boyle, Rod Mitchell, Chris McKinnell, Sheila Macpherson, Roland Donat, Chitranjan J Shukla, Anne Jorgensen, Ewa Rajpert-De Meyts, Niels E Skakkebaek, Richard M Sharpe
The testicular dysgenesis syndrome (TDS) hypothesis, which proposes that common reproductive disorders of newborn and adult human males may have a common fetal origin, is largely untested. We tested this hypothesis using a rat model involving gestational exposure to dibutyl phthalate (DBP), which suppresses testosterone production by the fetal testis. We evaluated if induction of TDS via testosterone suppression is restricted to the "masculinization programming window" (MPW), as indicated by reduction in anogenital distance (AGD)...
March 23, 2017: JCI Insight
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