Biomedical subjects

J Pablo Méndez

Publications and source records attributed to J Pablo Méndez.

3 recordsLinked to original sources

PubMedDate not supplied

[Isosexual precocious puberty secondary to a subarachnoid cyst].

A new case of isosexual precocious puberty due to the presence of a subarachnoid cyst is reported. A female patient 16 months old was brought to our outpatient clinic because she had had two episodes of endometrial bleeding. Activity of the hypothalamic-pituitary-ovarian axis was demonstrated by pubertal concentrations of LH, FSH and estradiol. An arteriography and a CT demonstrated the presence of a subarachnoid cyst which was conditioning the pubertal process. Surgical resection of almost all the cyst, along with shunting, did not suppress endocrine activity. Suppressive treatment with medroxyprogesterone acetate was prescribed in order to accomplish the arrest of the pubertal process.

Cysts↗

PubMedDate not supplied

MURCS association and hypothalamic anovulation.

A new case of MURCS association (mullerian duct aplasia, renal aplasia and cervicothoracic somite dysplasia) in an 18 year old patient is reported. In addition to other minor phenotypical features, hypothalamic chronic anovulation was documented. Basal concentrations of PRL, TSH, GH, F and E were within reference values for adult women. Challenges with TRH and ACTH evoked normal responses in terms of TSH and F respectively. Basal levels of LH and FSH and a LHRH stimulation test demonstrated dissociation of both gonadotrophins. Persistent progesterone values within follicular phase levels led us to the diagnosis of hypothalamic chronic anovulation which was confirmed by the induction of ovulation by clomiphene citrate. This finding shows the importance of a detailed endocrinological evaluation in patients with the MURCS association in order to prevent secondary disorders due to endocrinological impairment.

Abnormalities, Multiple↗

PubMedDate not supplied

[Molecular detection of chromosome Y DNA sequences in patients with Turner's syndrome].

The presence of Y-chromosome material in the genome of phenotypic females has been associated with an increased risk of developing gonadal tumors. To assess whether DNA sequences of the Y-chromosome are present in the genome of individuals with gonadal dysgenesis and clinical features of Turner's syndrome, we have studied three patients with 45, X/46, X, + mar chromosome complement, and two Turner patients with 45, X/46, XY and 45, X karyotypes who served as positive and negative controls, respectively. Molecular detection of Y-DNA sequences was done by DNA-DNA hybridization using the specific probes pY97 and pDP1007 as well as by polimerase chain reaction. The results revealed that the marker chromosome of one of the patients contained DNA sequences from the centromeric region of the Y-chromosome in a manner similar to that found in the 45, X/46, XY patient and in the male control; the gene ZFY was negative in this patient, and was probably lost when the ring chromosome was formed. In contrast, the ring chromosomes of the other two patients did not exhibit the presence of Y-chromosome material. The results were interpreted as demonstrating the Y-chromosome origin of the ring marker in one patient with gonadal dysgenesis, and suggest an X-chromosome origin of the ring markers in the other two patients. These data further underline the relevance of practicing molecular studies in these disorders which may help to determine appropriate therapeutic strategies.

Adult↗