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D Saavedra

Publications and source records attributed to D Saavedra.

22 records · Page 2Linked to original sources
PubMed1982

Distribution of ABO blood groups and other genetic markers in mothers of infants with congenital malformations.

The distribution of ABO and Rh (antigen D) blood groups and of serum albumin, haptoglobin and transferrin variants, in a group of mothers of malformed newborns was investigated. In the first phase of the study, the results showed borderline statistical differences in the distribution of the transferrin types between the study group and a suitable control population. The second phase of the research, where only transferrin phenotypes were studied, showed the same trend as in the first one, but the results were not statistically significant. We conclude that probably there are no true distribution differences, but that it would be desirable to study this problem in a different ethnic group.

ABO Blood-Group System↗
PubMed1981

Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness.

An inherited form of incomplete male pseudohermaphroditism was studied in two post-pubertal and one pre-pubertal sibling. All patients presented a 46XY karyotype infantile female external genitalia, lack of breast development and sexual hair. Persistently elevated serum levels of gonadotrophins with normal pituitary responsiveness to LRH were found. Serum 17-OH progesterone, androstenedione, and testosterone levels were extremely low before and after gonadal stimulation with hCG. Laparotomy revealed absence of Wolffian and Mullerian derivatives. Testes were small and cryptorchidic. Microscopic and ultrastructural examination revealed seminiferous tubules with absence of spermatogenesis and normal Sertoli cells. The interstitial spaces were mainly occupied by poorly differentiated cells although in the post-pubertal patients there were small and randomly distributed nodules of Leydig cells without crystaloids. Incubation of testicular tissue from one post-pubertal patient with [14C]acetate showed lack of 14C-incorporation into appropriate steroid carriers. These data were interpreted as demonstrating that gonadotrophin resistance was the underlying abnormality of this syndrome, representing the human counter part of the "vet" pseudohermaphroditic rat.

Adolescent↗
PubMed1976

Pseudohermaphroditism due to XY gonadal absence syndrome.

A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release of gonadotrophins was assessed by measuring plasma LH and FSH in plasma samples obtained at 20-minute intervals for a 4-hour period. Endocrine gonadal function was evaluated by a stimulation test with human chorionic gonadotrophin for 3 days. The results showed: a) persistently raised plasma levels of both LH and FSH; b) a pulsatile pattern of release of both gonadotrophins and a normal pituitary response to the synthetic hypothalamic decapeptide; and c) extremely low levels of circulating testosterone and oestradiol with a lack of response to the HCG stimulus. A careful exploratory laparotomy revealed absence of uterus, Fallopian tubes, the Mullerian portion of the vagina, and gonads. No Wolffian derivatives were found. A dissociation of testosterone and the so-called Jost substance effects during early sexual development may explain the findings in this unusual abnormality. The term 'XY gonadal absence syndrome' including five types of variants to designate this condition is proposed.

Disorders of Sex Development↗