Normally, there are 23 pairs of chromosomes found in human beings. But in some conditions, a mother has a fetus with an additional chromosome at T21(21st position) which is said to be the fetus with Trisomy-21 (Down Syndrome). There are many factors of Down Syndrome - nasal bone absence, short nasal bone, thick amniotic fluid (greater than 3 mm), fetal heart rate (FHR), Crown Lump Length, short arm, and thighs’ bones; are screened during 10-14th (First Trimester) and 15-22nd week (Second Trimester) of pregnancy.

Sparsely granulated corticotroph pituitary neuroendocrine tumors are rare tumors that may sometimes present without signs of hypercortisolemia, creating diagnostic challenges. We describe a case of a 29-year-old female who sought medical attention due to amenorrhea. Diagnostic evaluations revealed hyperprolactinemia, and an MRI showed a 1.2 x 1.5 x 1.6 cm pituitary macroadenoma, which caused a mass effect on the optic chiasm.

Down syndrome (DS), caused by trisomy 21, is the most frequent genetic cause of intellectual disability worldwide. Advances in medical care have markedly increased life expectancy, revealing a new clinical challenge: premature aging and a very high prevalence of Alzheimer’s disease (AD) in adulthood. Nearly all adults with DS develop cerebral amyloid pathology by midlife, largely due to overexpression of the amyloid precursor protein gene located on chromosome 21.

Trisomy 21 (T21) is the most common chromosomal disorder and is associated with a substantially increased risk of epilepsy, affecting approximately 5–10% of children [1,2]. Among infants with T21, infantile epileptic spasms syndrome (IESS) is the most common epilepsy syndrome of the first year of life, with a reported prevalence of 0.6–13%, approximately 100-fold higher than in the general population [3,4]. The occurrence of IESS adds an additional burden to a population already at risk for neurodevelopmental impairment, making early recognition and effective treatment particularly important [2,5,6].