ISSN:1663-2818    

DOI:10.1159/000179477

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1663-2818    

DOI:10.1159/000179478

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.

ISSN:1663-2818    

DOI:10.1159/000179479

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

The plasma levels of 8 steroid hormones were studied longitudinally in 20 new-borns affected with either 21-hydroxylase (21-OH), 11-hydroxylase (11-OH) or 3β-hydroxysteroid deshydrogenase (3β-ol) deficiencies during the first month of life. Comparison was also made between the patterns observed according to age at first examination (n = 13 before 8 days of age) and the type of the enzymatic block. The most striking findings were the variability in hormone levels and/or evolution with age and the difficulties in making a definite positive or etiological diagnosis at first examination. In some newborns with untreated 21 -OH deficiency, 17α-hydroxyprogesterone levels may start off within the normal range or not so far above it. Also, levels of unconjugated dehydroepiandrosterone and other Δ5 steroids may be so high during the first week of life in all 3 forms that an erroneous diagnosis of 3β-ol deficiency could easily be considered. In several cases the etiological diagnosis was only ascertained by multiple steroid determination and/or dynamic tests. These discrepancies were not found in infants studied later on in life. It thus appears that a peculiar steroid pattern is observed in the immediate postnatal period in babies with various enzyme defects, which might be related to the morphological changes occurring in the adrenal cortex at this

ISSN:1663-2818    

DOI:10.1159/000179480

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

The paradoxical association of female pseudohermaphroditism and androgen deficiency was observed in two 46, XX subjects with high corticosterone plasma levels. Subject 1 has been declared a boy due to clitoris enlargement; she had no vagina and uterus. Subject 2 had ambiguous external genitalia. In both, at age 27 and 17 years, fusion of outer labia, impuberism, ovarian cysts, and histologically normal ovarian tissue were observed. Blood pressure was normal. Basal cortisol levels were normal but unresponsive to ACTH. Progesterone levels were 40 and 62 ng/ml and rose after ACTH (50 and 79 ng/ml). 17-hydroxyprogesterone levels were 25 and 21 ng/ml and did not rise after ACTH. Corticosterone levels were 70 and 92 ng/ml and rose after ACTH (110 and 180 ng/ml). All three steroids were suppressed by dexamethasone. Androgen and estrogen levels were at or below the lower limit for normal women. The sex steroid levels obtained by radioimmunoassay in plasma and a follicular cyst fluid were confirmed by isotope dilution-mass spectrometry. We suggest that the sexual ambiguousness resulted from an excessive production of gestagenic steroids during fetal life, and that the enzyme defect is either a partial 17α-hydroxylase defect combined with a peripheral production of 17-hydroxyprogesterone, or else a partial 17–20-desmolase defect with a secondary 21-hydroxylase defect limited to the cortisol pathw

ISSN:1663-2818    

DOI:10.1159/000179481

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

In a total of 101 children, the dehydroepiandrosterone (DHA) and cortisol (F) levels were measured before and after ACTH (Synacten®) administration. F responsiveness was unchanged during development, while DHA responsiveness in healthy children was highest during adrenarche. In hypopituitary patients DHA levels were lower than in the controls, but responsiveness to ACTH showed similar changes during development. Children with Turner’s syndrome and hypergonadotrophic males had the response in elevated DHA levels while ACTH-induced DHA response related to bone-age matched controls. We conclude that regulation of adrenal androgens is mediated by both ACTH and another hypothalamo-pituitary hormone, perhaps independent of gonadal activation, but requiring gonadal integri

ISSN:1663-2818    

DOI:10.1159/000179482

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

The FSH-dependent aromatase activity of Sertoli cell enriched cultures of testicular cells from immature rats was utilized as a sensitive and specific in vitro bioassay for FSH activity. The conversion of 19-hydroxyandrostenedione to estradiol was used as the end point of the assay. By the introduction of a phosphodiesterase inhibitor into the culture medium, the sensitivity was improved 5–10 times, so that 0.05 mlU of FSH showed a response significantly different from the blank. Other pituitary or placental hormones, such as hLH, hTSH and hCG exhibited less than 0.8% cross-reactivity, whereas hGH, hPRL, ACTH1-24, LH-RH, and prostaglandin E2α did not show any cross-reaction at the doses test

ISSN:1663-2818    

DOI:10.1159/000179483

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

Random plasma somatomedin-C (SM-C) levels were measured in 143 children and adolescents with growth at or below the 5th percentile. 124 patients had short stature due to constitutional delay or genetic predisposition and 19 patients were growth hormone deficient (GHD). When analyzed according to bone age, mean somatomedin-C levels rose gradually with increasing bone age in non-GHD patients, while there was no change with increasing bone age in GHD patients. All patients with SM-C levels < 0.5 U/ml underwent growth hormone testing to rule out GHD. This criterion resulted in 52% accuracy in identifying non-GHD patients and 100% accuracy in identifying GHD patients. Comparison of the SM-C test with the exercise GH screening test demonstrated the advantage of greater convenience for the SM-C test, and comparable cost effectiveness despite a lower specificity associated with the SM-C test. SM-C levels were not predictive of peak growth hormone response nor could they be used to differentiate constitutional delay of growth and maturation from genetic short stature.

ISSN:1663-2818    

DOI:10.1159/000179484

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

There is concern about noise exposure in the hospital environment and its effects on infants. Stress reactions, however, are difficult to measure, especially in this age group. Urinary T4 and T3 have proved to be equivalent to catecholamine determinations in helicopter pilots and in motion sickness. They represent the free fraction of thyroid hormones in serum. Timed collections of urine were made in 78 healthy infants and in 43 infants exposed to standardized noise. T4 and T3 were determined by RIA on Sephadex columns. Medians and ranges are given for day and night and before, during and after noise exposure.

ISSN:1663-2818    

DOI:10.1159/000179485

出版商:S. Karger AG    

年代:1982

数据来源: Karger