MCQ related random thing to learn

Question 1

How does kleinfelters present?

Whats the genetics?

Answer 1

The most common genotype is 47,XXY

Damage to the seminiferous tubules and, usually, damage to the Leydig cells as well.
The gonadal manifestations include almost invariably small, firm testes; severely subnormal sperm count; infertility; elevated serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) concentrations; variably subnormal serum testosterone concentration; and decreased virilization
The damage may be increased if the patient also has cryptorchidism, the incidence of which is increased in Klinefelter
●A long bone abnormality, resulting in increased length of the legs, independent of the increased length of both the arms and legs caused by testosterone deficiency.
●A psychosocial abnormality, unrelated to the hypogonadism, which causes difficulty in social interactions throughout life and has been characterized by “marked lack of insight, poor judgment, and impaired ability to learn from adverse experience”
●Impairment of higher level linguistic competence but relative sparing of vocabulary and understanding of language
●Deficit in the ability to sustain attention without impulsivity
●Predisposition to develop morbidity later in life that are unrelated to testosterone deficiency
These include pulmonary diseases such as chronic bronchitis, bronchiectasis, and emphysema thromboembolic disease cancers, including germ cell tumors (particularly extragonadal tumors involving the mediastinum) [ breast cancer [12], and possibly non-Hodgkin lymphoma [13]; varicose veins, leading to leg ulcers [14]; systemic lupus erythematosus, probably due to the extra X chromosome [15]; and diabetes mellitus [16]. (See “Extragonadal germ cell tumors involving the mediastinum and retroperitoneum” and “Breast cancer in men”.)

Question 2

What increases AFP

Answer 2

Advancing gestation 	
NTD 
Abdominal wall defects 
Anaemia
Nephrosis, teratomas, benign obstructive uropathy 
Twin pregnancy 
Black woman 
Fetal death

Question 3

What decreases AFP

Answer 3

T21
T18
High BMI (dilutional)
Normal levels are lower in diabetics