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PubMed · 7332154

[Smith-Lemli-Opitz Syndrome; endocrinologic study (author's transl)].

M T Muñoz Calvo·M J Ceñal González·I Parra Martínez·F Hervás Olivares·J A Nieto Cuartero·R G Lestache
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Abstract

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.

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Abnormalities, MultipleBlood GlucoseChildDermatoglyphicsGrowth DisordersHumansIntellectual DisabilityMaleMicrocephalyPituitary Hormones, AnteriorSyndromeCase ReportsEnglish AbstractJournal Article

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M T Muñoz Calvo, M J Ceñal González, I Parra Martínez, F Hervás Olivares, J A Nieto Cuartero, R G Lestache. 1981. [Smith-Lemli-Opitz Syndrome; endocrinologic study (author's transl)].. https://pubmed.ncbi.nlm.nih.gov/7332154/

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