[Smith-Lemli-Opitz Syndrome; endocrinologic study (author's transl)].
A case of Smith-Lemli-Opitz syndrome is reported in an 8 year old boy of related parents. He presented clinical features of the syndrome, with a normal male karyotype, distal axial triradii and increased number of whorl dermatoglyphic. Cerebral T.A.C. revealed an hypodensity zone in the left cerebral hemisphere. Authors studied the hypotalamo-pituitary axis finding a normal secretion of FSH and LH. The secretion of TSH and PRL under TRH stimulation showed an enhanced response. Plasma GH response to insulin induced hypoglycemia plus L-arginine was within normal limits.
D000015:Abnormalities, Multiple / Q000150:complications*; D001786:Blood Glucose; D002648:Child; D003878:Dermatoglyphics; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000150:complications*; D010908:Pituitary Hormones, Anterior / Q000097:blood; D013577:Syndrome
D001786:Blood Glucose; D010908:Pituitary Hormones, Anterior
Síndrome de Smith-Lemli-Opitz: estudio endocrinológico. A propósito de un caso.