cryptorchidism/asthenia

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Testicular rerouting by modified Prentiss maneuver: usefulness in bilateral synchronous orchidopexy for high inguinal undescended testes.

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OBJECTIVE To describe our experience and illustrate the surgical procedure of synchronous bilateral testicular rerouting in high inguinal undescended testes (HIUT) by extending the use of "modified Prentiss maneuver" in bilateral situation, to establish this as a procedure of choice in bilateral

Life-threatening germ cell tumor arising in cryptorchidism: a case report.

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We report a case of life-threatening germ cell tumor in abdominal cryptorchidism. A 32-year-old man presented with a three-month history of dyspnea, loss of appetite, general weakness and a large abdominal mass. Physical examination revealed vacancy of the right scrotal contents. Chest radiograph

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

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We present 3 children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T

Arthrogryposis multiplex congenita: spectrum of pathologic changes.

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The pathologic features of muscle and/or spinal cord were studied in 96 infants and children with contractures of multiple joints (arthrogryposis multiplex congenita), usually in association with other congenital abnormalities. Ninety of these infants had a neurogenic form of arthrogryposis, and six

Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia.

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One of the challenging issues in patients with complex problems is that the various diseases and their treatment can influence each other and present unusual hurdles in management. We investigated one such complex case. A 34-year-old XY male presented with azoospermia, detected on semen analysis for

Hypogonadism and fertility issues following primary treatment for testicular cancer.

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BACKGROUND The majority of testicular cancer (TC) patients are cured and expected to live for decades after treatment, such that knowledge about hypogonadism and fertility issues is particularly important for the group of testicular cancer survivors (TCSs). Hypogonadism and fertility issues are

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

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Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers. Diagnosis was established by muscle biopsy within the first week of life in two and at autopsy in the two other patients: Central nuclei, central aggregation of oxydative

Atypical Prader-Willi syndrome with severe developmental delay and emaciation.

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A young boy showed features of Prader-Willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the

Neonatal nemaline myopathy presenting with multiple joint contractures.

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A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.

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Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical

Unusual presentation of prune belly syndrome: a case report.

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BACKGROUND Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period.

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