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Cryptorchidism occurs at a much higher rate in a large number of congenital malformation syndromes. Among the more common are Down syndrome, [8] Prader–Willi syndrome, and Noonan syndrome. In vitro fertilization, use of cosmetics by the mother, and pre-eclampsia have also been recognized as risk factors for development of cryptorchidism. [11]
The condition occurs in males and consists of normal-functioning reproductive organs and gonads, but also female reproductive organs such as the uterus and the fallopian tubes. The fetus has two sets of tubes which give rise to accessory reproductive organs - the (Wolffian) mesonephric ducts and the (Müllerian) paramesonephric ducts .
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral ...
The gonads in individuals with PAIS are testes, regardless of phenotype; [2] during the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome. [27] [28] Cryptorchidism is common, [1] [2] and carries with it a 50% risk of germ cell malignancy. [29]
Heart malformations, ocular anomalies, and bilateral mixed hearing loss are often present in patients. Genital malformations such as cryptorchidism, hypospadias, clitoromegaly, and hypoplasia are common. In a smaller number of cases, thyroid agenesis, hypothyroidism, intestinal malrotation, and respiratory difficulties are present.
The most common presentation of testicular cancer is a hard, painless lump which can be felt on one of the testis. It is either noticed by a clinician during a routine examination, or the patient themselves. Risk factors for TC include cryptorchidism, family history, and previous testicular cancer. A diagnosis is confirmed in various ways.
Hypospadias is a common malformation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth, [3] although when including milder cases, is found in up to 4% of newborn males. [4]
Cryptorchidism, or "undescended testicles", is when the testicle does not descend into the scrotum of an infant boy. [30] Testicular enlargement is an unspecific sign of various testicular diseases, and can be defined as a testicular size of more than 5 cm × 3 cm (short axis). [42]