Recurrent short rib-polydactyly syndrome with unusual associations.

Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre- and postnatal assessments may enable individual cases to be classified into 1 of 4 subtypes. In this report, we present a recurrent case of SRPS that was associated with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18.

Perinatal complications following gestational diabetes mellitus how 'sweet' is ill?

OBJECTIVE: We tested the effect of patient compliance, fasting plasma glucose on oral glucose tolerance test, maternal body constitution, and the method of treatment (diet versus insulin) on the perinatal outcome of patients with gestational diabetes mellitus. STUDY DESIGN: A prospective population-based study compared the perinatal outcome of patients with gestational diabetes mellitus (n = 470) (diabetic with regard to the parameters specified above) and a contemporaneous control group (nondiabetic, n = 250). RESULTS: The diabetic and control groups were matched in demographic characteristics. Patient compliance reduced the rate of macrosomia (14.4%) and neonatal hypoglycemia (3.4%) but not to the levels of the control group (5.2% and 1.2% respectively, p < 0.05). The level of fasting plasma glucose on the oral glucose tolerance test had no effect on perinatal outcome. Intensified (insulin) treatment reduced the rate of macrosomia and large-for-gestational age infants in the subgroups with intermediate and high levels of fasting plasma glucose on the oral glucose tolerance test (9.5%/14.2% and 12.2%/24.2% respectively), again not to levels of the control group (5.2%/10.8%). Obese patients were found to have more perinatal complications than lean patients. Intensified (insulin) treatment has proved to be beneficial in terms of reducing the rate of perinatal complications in the obese patients, but not to the corresponding levels of the control group. Such treatment had no effect on the lean patients. CONCLUSIONS: Strict control of maternal hyperglycemia and high patient compliance are imperative for an effective reduction of perinatal complication in patients with gestational diabetes mellitus. The desired plasma glucose level in the glycemic control of these patients should be further reduced, thus bringing the rate of perinatal complications to that of the normal population.

Coexistence of low secretion of gonadotropins and ACTH in a patient with gonadal dysgenesis and pituitary tumor.

A 56-year-old woman with gonadal dysgenesis and pituitary adenoma is described. The unusual feature in this patient was the coexistence of a low gonadotropin level with secondary ACTH deficiency rather than the high gonadotropin level usually found in gonadal dysgenesis. Secretion of the other pituitary hormones was normal. Several hypotheses for such an unusual combination are presented.

The protracted effect of o,p'-DDD in Cushing's disease and its impact on adrenal morphogenesis of young human embryo.

We hereby present a patient with Cushing's disease who became pregnant while being treated with o,p'-DDD and underwent a therapeutic abortion in view of the known embryotoxicity and placental transfer of this drug. Biopsy of adipose tissue in this patient showed it to be the storage site of considerable quantities of o,p'-DDD. Serum levels of o,p'-DDD determined in this patient initially four months after withdrawal of treatment and in another similar case three months after withdrawal were about 20 times higher than those found in untreated patients and reached control values only about 20 months later. Repeated evaluation of plasma and urinary free cortisol failed to reveal any correlation with the serum levels of o,p'-DDD, suggesting that the drug blood values cannot be used as a reliable indicator of the therapeutic effect on the adrenal gland. The histopathological examination of the embryo, aged about 42 days, revealed a dysmorphogenic event in the cortical primordia characterized by pycnotic sympathoblasts. It is suggested that such a toxic effect of o,p'-DDD on the embryonic cortical cells may act indirectly, affecting the viability of the migrating sympathoblasts.

Cushing's disease coexisting with a single macronodule simulating adenoma of the adrenal cortex.

A rare case of Cushing's disease coexisting with a single macronodule simulating adenoma of the adrenal cortex is presented. The basal and dynamic tests supported the diagnosis of Cushing's disease, whereas the CT-scan, ultrasound and iodocholesterol uptake were suggestive of a left adrenal adenoma. Treatment consisted of extirpation of the nodular gland followed by pituitary irradiation. The examination revealed a single macronodule with no histological membrane, surrounded by hyperplastic adrenocortex. Together with the three similar ones reported in the literature this case suggests that nodular hyperplasia may be an intermediary stage between diffuse hyperplasia and the appearance of an autonomous adenoma after long-term stimulation of the hyperplastic gland.