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W Sorgo

Publications and source records attributed to W Sorgo.

17 recordsLinked to original sources
PubMed1995

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.

We report on 12- and 14-year old sisters with a 46, XY chromosome constitution, normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis and malrotation of the colon in the elder sister, the internal organs were normal. Both were mentally retarded, of short stature, and had extremely retarded bone age. In addition, they had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, "dysplastic" hips, partial clino-/syndactyly of toes. The occurrence of a basically similar set of malformations in two sisters and the first cousin consanguinity of the parents suggests autosomal recessive inheritance. The conserved region of the SRY gene ([high mobility group] HMG box) was sequenced in the elder sib and was normal. No consistent malformations are observed at present in agonadal patients. This supports the idea that several autosomal genes have the potential of influencing the sequence of events of sex determination.

Abnormalities, Multiple↗
PubMed1993

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.

We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well.

Abnormalities, Multiple↗
PubMed1991

Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome.

A full-term 46,XY female newborn presented with respiratory failure due to a right-sided diaphragmatic hernia. During surgical repair, exploration revealed isolated dextrocardia and hypoplasia of the right lung. Neither gonads nor wolffian or müllerian structures could be palpated. Cardiac catheterization demonstrated defects of the ventricular septum, hypoplasia of the right pulmonary artery, persistence of the left vena cava superior and a patent ductus arteriosus. Anthropometric data were normal at birth, but fell below the 3rd percentile during follow-up. Body proportions displayed a predominance of the upper compared to the lower segment. Endocrine studies indicated no defect of steroid biosynthesis and no functional gonadal tissue. Using genetic analyses of various loci within the testis-determining region of the Y chromosome, a mutation could not be detected. The patient died from pneumonia at the age of 19 months. Postmortem examination confirmed the diagnosis of gonadal agenesis.

Abnormalities, Multiple↗
PubMed1988

Testosterone-secreting adrenocortical tumor in a pubertal girl. Case report and review of the literature.

A girl aged 12 years and 10 months presented with deepening of the voice first noted 7 months earlier. Pubertal development was almost completed. The girl had regular monthly menses and no signs of hirsutism, clitoris enlargement or Cushing's disease. Serum testosterone was about threefold above normal, whereas dehydroepiandrosterone was in the upper normal range. The 17-ketosteroids as well as the gas-chromatographically analyzed 5 alpha and 5 beta derivatives of testosterone from urine were slightly increased. Other serum and urinary steroids were normal. Dynamic tests of the endocrine function exhibited inconclusive results. Ultrasonography revealed no ovarian cysts. A small, left-sided adrenal mass was identified by computed axial tomographic scan and removed by surgery. There were no signs of local metastasis nor of vascular extension. The histopathological diagnosis was adrenocortical carcinoma. 5 months after surgery, the preoperatively elevated steroid levels had returned to normal.

Adolescent↗
PubMed1987

The effects of cyproterone acetate on statural growth in children with precocious puberty.

Forty-four patients (42 f, 2 m) with precocious puberty (31 idiopathic, 1 familial, 7 cerebral, 5 McCune-Albright) were treated with cyproterone acetate for periods of 1-8.75 years in different (P less than 0.05) daily dosages of 117 +/- 6.1 mg/m2 per day (mean +/- SEM, group A, N = 20) and 60.8 +/- 2.42 mg/m2 per day (group B, N = 24). Thirty-three girls had experienced menarche before therapy at a mean age of 4.89 +/- 0.42 years. Treatment was started at a chronologic age of 5.45 +/- 0.33 years in the girls and 5.74 +/- 1.34 years in the boys. At the time of evaluation, 31 of our patients had reached final height. With respect to the effects of treatment on statural growth, the Standard Deviation Scores were retrospectively determined for height, weight, and growth velocity. The initial Bayley-Pinneau height predictions were compared with final height and target height, and the skeletal maturation was studied. There were no significant differences between those parameters in the patients of group A and B or between treated and untreated subjects as far as final height and target height were concerned. It is concluded that cyproterone acetate administered orally at daily doses from 50-150 mg/m2 does not improve statural growth of patients with precocious puberty.

Body Height↗
PubMed1984

Critical analysis of height reduction in oestrogen-treated tall girls.

Twenty-one girls with familial tall stature were reevaluated at 18 years of age. Fourteen of them had been treated with high-dose oestrogens (I), while seven girls had not been treated (II). The untreated group is comparable but not a strict control group. Recordings on initiation of the study were: Chronologic age: 12.0 +/- 1.4 (I) versus 13.5 +/- 1.5 years (II; means +/- SD), Bone age: (1) Greulich-Pyle: 11.8 +/- 1.4 (I) versus 13.1 +/- 1.1 years (II), (2) Tanner-Whitehouse II: 12.7 +/- 1.0 (I) versus 13.6 +/- 1.1 years (II). Mean height predictions according to (1) Bayley-Pinneau, (2) Roche-Wainer-Thissen and Tanner (3) with, and (4) without allowance for mid-parent height ranged from 179.4-184 (I) to 175.7-179.5 cm (II). In the treated group there was an average reduction of predicted height of between 2.3 and 6.5 cm, depending on which of the four methods was used. In the untreated group the average differences between calculated and observed mature height varied from 0.2-3.4 cm. The difference in the reduction of predicted height between the treated and untreated groups was significant (P less than 0.05) only with the Bayley-Pinneau method and not with the others. In the treated group highly significant correlations were found between height reduction and the initial chronologic age, bone age and duration of therapy.

Adolescent↗
PubMed1983

Radioimmunoassay of progesterone in saliva.

A rapid specific radioimmunoassay for progesterone in mixed, unstimulated saliva is described. Column chromatography is not necessary. One single extraction with petroleum ether provides a fractional recovery of 75-95%. The assay sensitivity is 9 pg progesterone/tube. The intra- and interassay variation for low, medium, and highly concentrated progesterone pools is 13.1-9.5 and 17.4-13.9%, respectively. Analytical recovery documents excellent correlation between expected and detected progesterone concentrations (r = 0.994). Data from salivary progesterone of a regularly menstruating girl and of a patient with XO Turner's syndrome are provided.

Adolescent↗
PubMed1982

Longitudinal anthropometric measurements in patients with growth hormone deficiency. Effect of human growth hormone treatment.

The effect of human growth hormone (6IU/m2 twice weekly i.m.) on standing, sitting, and subischial leg height, on arm length, head circumference, fronto-occipital and biparietal head diameter, bi-iliac (pelvis) and bihumeral (shoulder) width, body weight, triceps and subscapular skinfold thickness, and upper arm and calf circumferences was studied longitudinally over a period of 2 years in 37 prepubertal growth hormone deficient patients (29 boys, 8 girls). Thirteen of them had isolated growth hormone deficiency, 18 combined defects with other anterior pituitary hormone deficiencies, and 6 had been operated for a craniopharyngioma. The most retarded height and length measurements were influenced most markedly by treatment in the fashion of a characteristic catch-up growth, while head circumference, which was less retarded initially, increased more slowly. With exception of craniopharyngioma patients, who became slightly eunuchoid, both proportions (sitting height versus subischial leg height) were not changed by treatment. The disproportions of shoulder and hip width (relatively wide pelvis, narrow shoulders before treatment) tended to be normalized. The results in patients with operated craniopharyngioma were not as good as in those with idiopathic growth hormone deficiency.

Adolescent↗
PubMed1982

Transient impairment or delay of urinary trihydroxypregnanone (THS) response to metyrapone in boys with delayed adolescence and in patients with isolated growth hormone deficiency.

Twenty three boys with delayed adolescence (age 15.7 +/- 2.0, bone age 12.4 +/- 2.1 years) were studied. Their cortisol response to insulin was normal. After oral metyrapone (500 mg/m2 by mouth) one to three consecutive 12 h urine samples were collected for analysis of THS. Thirty seven tests with 37 first, 21 second, and 11 third samples were carried out. The results could be divided into two main groups: 25 tests (group A) were subnormal in the first sample, 12 of them with a very weak (40 +/- 8 micrograms/m2/12 h) and 13 with an insufficient (191 +/- 16 micrograms/m2/12 h) THS response. Values in the second and third sample were higher, indicating a delayed response. In 12 tests (group B), the results were normal (1016 +/- 143 micrograms/M2/12 h) in the first and lower in the second and third samples. In three patients with repeated tests, there was improvement with increasing bone age. The THS-responses to metyrapone did not correlate with those of growth hormone, gonadotrophins, and TSH to stimuli. It is concluded that the THS-response to a single dose of metyrapone may be temporarily insufficient or delayed in delayed adolescence. We interpret this finding as showing transiently reduced or slow hypothalamic responsiveness.

17-Hydroxycorticosteroids↗
PubMed1982

[Virilization caused by methandrostenolone-containing cream in 2 prepubertal girls].

Two prepubertal girls were treated with Dianabol cream by their family physicians during 6 and 8 months because of an anal exzema. In both of them, growth velocity and bone maturation were accelerated, and there was hypertrophy of the clitoris and deepening of the voice. In one girl, all symptoms with the exception of the deep voice had disappeared six years after the discontinuation of treatment. In the other girl, final evaluation is not yet possible. The two observations show that androgens and anabolic steroids may have a marked systemic action if applied percutaneously. Treatment with these compounds is indicated very rarely in children and should be restricted to pediatric endocrinologists.

Body Height↗
PubMed1977

[Diphtheria].

Explore the source record for details and available documents.

Ampicillin↗
PubMed1977

[T3-thyrotoxicosis in a 12 year old girl (author's transl)].

Isolated Triiodothyronine (T3) hyperthyroidism in childhood is rate. The incidence among hyperthyroid children is about 10%. The authors present a case history of a 12 2/12 year old girl with T3-thyrotoxicosis. Cause, diagnosis and therapy are thoroughly discussed. The importance to estimating serum T3 concentration for establishing the diagnosis of T3 hyperthyroidism is emphasized.

Child↗
PubMed1976

[Minor diphtheria epidemic in a Cologne children's home (author's transl)].

Between May and July 1972, 12 children aged from 7 to 14 were admitted to the Cologne University Children's Hospital suspected of having diphtheria. In 10 cases the tonsils or pharyngeal cavity were affected. One case of wound diphtheria and one of nasal diphtheria were observed. The clinical suspicion was confirmed in 8 of 12 cases by detection of the pathogen Coryne-bacterium diphtheroides mitis. 11 patients were discharged from the hospital after being treated for between 2 to 6 weeks, but 5 of them needed ambulant cardiac observation. One patient died of malignant diphtheria with symptoms of cardiovascular failure. He had not been treated specifically for 1 week at first. Not one of the 12 patients had been satisfactorily immunized by active inoculation with diphtheria toxoid.

Adolescent↗
PubMed1976

Asymmetry of the lipid-bilayer of Sindbis virus.

The organization of the lipid bilayer of the enveloped Sindbis virus has been studied. In the model membrane which consists only of two virus specific glycoproteins and host derived lipids the latter were radioactively labelled with 14C-palmitic acid by prelabelling their BHK 21 host cell lipids. The purified virus particles were submitted to neuramidase, bromelain and combromelain-neuraminidase treatment. It could be demonstrated that N-acetyl neuraminic acid residue of the total hematoside present in the virion is hydrolyzed by neuraminidase leaving the particles fully intact. Proteolysis of the spikes leads to particle aggregation yet an unchanged hematoside content. This was fully transformed into ceramidelactoside by subsequent neuraminidase treatment. The analyses of the ceramide species present in hematoside of the control particles and ceramidelactoside derived thereof by neuraminidase hydrolysis are in very close agreement. From these experiments it is concluded that all hematoside molecules are organized in the outer half of the bilayer of the envelope.

Bromelains↗
PubMedDate not supplied

[Diagnosis and therapy of gigantism].

Some of the most important types of nonfamilial tall stature are discussed by stressing the clinical features, diagnostic aspects and therapeutic possibilities. The indications of treatment, the diagnostic procedures and steroid therapy of the familial type of tall stature, the predominant variant of tall stature, are presented in detail. The effects, side effects and contraindications of high dose steroid treatment are described. The important prerequisite for the evaluation of psychosomatic problems of tall stature is the understanding of the dynamics and variations of normal growth. This and the knowledge of methods concerning growth analyses continue to be the basis of an accurate diagnosis.

Body Height↗
PubMedDate not supplied

Assessment of hypothalamic-pituitary-adrenocortical axis function in dexamethasone treated very low birth weight infants by a single dose metyrapone test and gas chromatographic mass spectrometric determination of urinary steroids.

In order to assess hypothalamic-pituitary-adrenocortical axis function, we conducted low and single oral dose metyrapone tests (35 mg/kg) in dexamethasone treated very low birth weight infants with bronchopulmonary dysplasia (n = 12). The responses to metyrapone of tetrahydro-11-deoxycortisol (THS) and cortisol metabolites were analyzed by gas chromatography and mass spectrometry in 24-h urinary specimens. For comparative reasons, morning plasma 11-deoxy-cortisol and cortisol were measured by radioimmunoassay before and after metyrapone. No side effects of metyrapone were observed in our patients. In 5 of 12 patients, no urinary THS could be stimulated after metyrapone and most of the other patients had small increases in urinary THS. These findings suggest suppressed or strongly impaired hypothalamic-pituitary-adrenocortical axis function in most patients. While the concentrations of plasma 11-deoxycortisol showed little variation, those of plasma cortisol were grossly different from the respective urinary values. We recommend steroid analysis in 24-h urinary specimens by gas chromatography and mass spectrometry, because urinary steroids provide more information and the highly specific analytical technique is independent of phenomena such as cross reactivity or matrix effects. The low and single oral dose metyrapone test in combination with urinary steroid analysis by gas chromatography and mass spectrometry therefore provides a noninvasive, convenient and safe means of evaluating the integrity of the hypothalamic-pituitary-adrenocortical axis in very low birth weight infants.

Adrenal Cortex↗