Genetic aspects of secondary amenorrhea in Egyptian females

الملخص EN

-Newborn screening aims at the earliest possible recognition of the disorders in order to intervene for prevention of mental retardation.

Selective screening program is important to detect the probands and their high risk relatives for prevention and therapy.

Our general screening program included 2000 infants screened by paper chromatography for plasma samples.

There were only one case with transient neonatal tyrosinemia (0.05%) and one case with generalized aminoacidemia (0.05%).

As regards the selective screening program, among the 450 cases of mental retardation (MR) examined, 280 cases were suspected of having in born errors of amino acid metabolism by specific criteria taken as markers, e.g.

convulsions and/or progressive neuro mental deterioration, speech defect and/or deafness, MR with no acquired or chromosomal etiology and organic brain damage of a obscure etiology.

We used paper chromatography and screening tests e.g.

ferric chloride test and nitroprusside test for urine and plasmas samples.

Among the 51 cases (11.32%) with confirmed positive inborn errors of amino acid metabolism, 40cases (78%) had phenylketonuria (PKU), 4 cases (7.84%) with generalized aminoaciduria, 2 cases (3.92%) with non ketotic hyperglycinemia, 2 cases (3.92%) with hyperprolinemia, 2 cases (3.92%) with histidinemia and one case (1.96%) with homocystinuria.

PKU cases can be classified into, classic type (90%), atypical type (7.5%) and malignant type (2.5%).

The main clinical findings included hypopigmentation (100%), MR (100%), physical retardation (90%), microcephaly (37.5%), hyperactivity (90%), seizures (25%), and abnormal EEG (42.5%).

The associated abnormalities include 3 cases (7.5%) with albinism, and 3 cases (7.5%) with eye abnormalities; namely enophthalmos, glaucoma, and optic atrophy.