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Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Almost all cases of prune belly syndrome are male. Recurrence in sibs is rare (below 1%) and several discordant monozygotic twin pairs are known. A substantial body of opinion is of the view that the syndrome is a consequence of early urethral obstruction and that the recurrence risk is dependent on the specific cause of the urethral obstruction.
Major neonatal conditions
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
The infant, usually a boy, is born with a flat and wrinkled- looking abdomen and undescended testes. Prune belly syndrome may be due to transient intrauterine obstruction of urinary outflow, causing gross distension of the bladder and upper urinary tract, which in turn is the cause of abdominal distension. Another theory is that the condition is due to abnormal mesodermal development.
Prune belly syndrome
Published in Prem Puri, Newborn Surgery, 2017
Salvatore Cascio, Hideshi Miyakita, Prem Puri
Prune belly syndrome is characterized by a triad of abnormalities, including an absence or deficiency of abdominal wall musculature, cryptorchism, and anomalies of the urinary tract. The characteristic deficiency of the abdominal wall musculature was first described by Frohlich et al.1 in 1839. Parker2 first reported the association of the genitourinary anomalies with the deficient abdominal musculature. The term “prune belly syndrome” was coined for this complex by Osler in 1901.3 Eagle and Barrett,4 in 1950, further defined the triad of absent abdominal wall musculature, undescended testes, and urinary tract abnormalities. The incidence of prune belly syndrome is estimated to be 1 in 27,000 to one in 40,000 live births.5–7 This syndrome occurs almost exclusively in boys. In females, it is extremely rare, with less than 50 cases described in the world literature.7,8 It is also known as pseudo–prune belly syndrome and is characterized by hypoplastic abdominal musculature and urinary tract and genital anomalies, most commonly bicornuate uterus and vaginal atresia.8
The effects and molecular mechanism of heat stress on spermatogenesis and the mitigation measures
Published in Systems Biology in Reproductive Medicine, 2022
Yuanyuan Gao, Chen Wang, Kaixian Wang, Chaofan He, Ke Hu, Meng Liang
Clinically, persistent high fever can also increase the temperature of the testis, thus affecting the normal production of sperm (Carlsen et al. 2003). In obese patients, the testicles are covered with thick layers of fat, which can also increase the temperature of the testicles and affect sperm production (Shafik and Olfat 1981; Hammoud et al. 2008; Du Plessis et al. 2010). The imbalance of endocrine hormones, such as LH and FSH, can also cause sperm production disorders (Barenton et al. 1982; Bergh et al. 1985). Disorders of nutritional hormone secretion may also cause an increase in testicular temperature, thus affecting sperm production (Deardorff et al. 1993; Roberts 1993). In addition, cryptorchidism can be caused by several diseases, such as Klinefelter syndrome, Koolen de Vries Syndrome, Prune Belly Syndrome, and some malignancies (Koolen et al. 1993; Gottlieb et al. 2009; Pomajzl and Sankararaman 2021).
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Another variant of VACTERL spectrum associated with non-communicating hydrocephaly (VACTERL-H) has been recently described where this phenotype overlapped that characterized by a Müllerian duct aplasia/hypoplasia, renal agenesis and/or ectopy and cervicothoracic somite dysplasia in the so-called MURCS association [72–74]. Other congenital anomalies that originate from a mesodermal disturbances during organogenesis are represented by Mayer-Rokintanski-Kuster-Hauser and Klippel-Fiel syndromes. These diseases may be grouped together under the term of “axial mesodermal dysplasia complex” [74]. VACTERL association has been also seen in a male fetus with tracheal agenesis [75], prune-belly syndrome [76] and caudal regression syndrome [77].
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Urorectal septum malformation sequence (URSMS) leading to meconium peritonitis and nonimmune fetal hydrops was first reported in 2006 [166]. Subsequently multiple papers looking at the etiology of all fetal hydrops cases attribute a small percentage (2-3%) to ‘urogenital malformations’, including prune-belly syndrome, renal agenesis, neonatal Bartter syndrome and cystic kidney disease [2,72,167–169]. Still, nonimmune fetal hydrops is an unusual presentation of urogenital tract malformations. There is little published in the literature which explores the relationship between urogenital malformations and fetal hydrops, or which attempts to explain the pathophysiology of the edema.