Young Simpson syndrome

Young Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.^[1][2]

Other symptoms include transient hypothyroidism, macular degeneration and torticollis.^[3] The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome.^[4][5] A individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present.^[6] Some doctors therefore consider the syndrome to be the same. ^[7]

The mode of inheritance has had mixed findings based on studies undertaken.^[5][8] One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic mutation, thus making it difficult to base the cause of the condition on genetic make up alone.^[5] Another study however with an individual of YSS had first cousins as parents, giving the possibility of autosomal recessive inheritance.

Endodermal sinus tumor

Endodermal sinus tumor (EST), also known as yolk sac tumor (YST), is a member of the germ cell tumor group of cancers. It is the most common testicular tumor in children under 3, and is also known as infantile embryonal carcinoma. This age group has a very good prognosis. In contrast to the pure form typical of infants, adult endodermal sinus tumors are often found in combination with other kinds of germ cell tumor, particularly teratoma and embryonal carcinoma. While pure teratoma is usually benign, endodermal sinus tumor is

Diagnosis

The histology of EST is variable, but usually includes malignant endodermal cells. These cells secrete alpha-fetoprotein (AFP), which can be detected in tumor tissue, serum, cerebrospinal fluid, urine and, in the rare case of fetal EST, in amniotic fluid. When there is incongruence between biopsy and AFP test results for EST, the result indicating presence of EST dictates treatment.^[1] This is because EST often occurs as small "malignant foci" within a larger tumor, usually teratoma, and biopsy is a sampling method; biopsy of the tumor may reveal only teratoma, whereas elevated AFP reveals that EST is also present. GATA-4, a transcription factor, also may be useful in the diagnosis of EST.^[2] Schiller-Duval bodies on histology are pathognomonic.

Diagnosis of EST in pregnant women and in infants is complicated by the normal extremely high levels of AFP in those two groups. Tumor surveillance by monitoring AFP requires accurate correction for gestational age in pregnant women, and age in infants.^{[citation needed]} In pregnant women, this can be achieved simply by testing maternal serum AFP rather than tumor marker AFP. In infants, the tumor marker test is used, but must be interpreted using a reference table or graph of normal AFP in infants.

Treatment

Most treatments involve some combination of surgery and chemotherapy.

Before modern chemotherapy, this type of neoplasm was highly lethal, but the prognosis has significantly improved since.

When treated promptly with surgery and chemotherapy, death from endodermal sinus tumors is exceedingly rare ^[3].