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Biomedical subjects

A Prader

Publications and source records attributed to A Prader.

At least 127 records · Page 7Linked to original sources
PubMed1976

[Longterm observation of latent diabetes mellitus in a prepubertal girl (author's transl)].

In a girl with latent diabetes mellitus, glucose tolerance and insulin release were regularly examined from 6 to 12 years of age. Under diet height and weight increased normally, the glucose intolerance disappeared, and the hypoinsulinism turned into hyperinsulinism with reactive hypoglycemia. This observation demonstrates that in a longitudinal study, the same patient may present in one period with glucose intolerance (latent diabetes) and insulin deficiency and in another period with normal glucose tolerance (prediabetes) and insulin excess.

Child↗
PubMed1975

Delayed adolescence.

Delayed adolescence has several causes. Most frequent is the physiological or constitutional (hereditary) delay of growth and adolescence. This is a normal variation of growth and development, with growth, bone age and puberty retarded in a harmonious way. It carries a good prognosis with late but normal puberty and late catch-up growth leading to normal adult height. It manifests itself long before puberty by short stature and retarded bone age. True endocrine defects with permanent hypogonadism (hypothalamic-pituitary deficiency of the gonadotropinds and primary gonadal failure) are rare. Differential diagnosis before puberty is not always possible on clinical grounds alone. The most useful laboratory test consists of the LH-RH test. The i.v. injection of the recently introduced hypothalamic LH-releasing hormone, LH-RH, is followed by an age-dependent increase of the plasma gonadotropinds LH and FSH. This test allows differentiation, before puberty, between constitutional delay of growth and adolescence with a normal response for bone age, true hypothalamic-pituitary insufficiency with no response, and primary gonadal failure with an increased response. True hypogonadism requires permanent sex hormone replacement therapy. Constitutional delay of growth and adolescence in boys may present a psychosocial indication for temporary hormone therapy with testosterone.

Adolescent↗
PubMed1975

Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund-Thomson syndrome).

In two adult patients with congenital poikiloderma (Rothmund-Thomson syndrome) the following endocrine abnormalities were found: Patient 1, female, with short stature had primary amenorrhoea and did not develop secondary sexual characteristics. Despite lacking an oestrogen effect on the vaginal smear and the low urinary oestrogen excretion, basal LH and FSH and their response to LH-RH were normal. At age 36 a parathyroid adenoma was diagnosed because of increased immunoreactive plasma parathyroid hormone and persistent hypercalcaemia. After removal of the tumour the patient remained normocalcaemic. The result of growth hormone response to insulin in the intermediate range was suggestive of partial deficiency. In patient 2, male, hypergonadotrophic hypogonadism with small testes and high basal LH and FSH levels as well as increased LH and FSH response to LH-RH were found. Plasma testosterone was normal. Endocrine abnormalities in previously published cases are summarized.

Adenoma↗
PubMed1975

Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism.

Basal TSH levels were found to be elevated in 6 patients with documented growth hormone deficiency and hypothyroidism. TRH (200 mug/m2 administered intravenously) led to an exaggerated TSH response. This is in contrast to the results in other GH-deficient children, with either a delayed rise of TSH (hypothalamic hypothyroidism due to TRH deficiency, n = 22), an absent TSH response (pituitary hypothyroidism due to TSH deficiency, n = 7), or a normal increase of TSH (isolated GH deficiency, n = 20). Elevated plasma TSH in the presence of hypothyroidism as seen in 6 of our patients with idiopathic hypopituitarism or craniopharyngioma, indicates an intact feedback action between the pituitary and the thyroid gland. TSH, however, seems to be inadequate for the maintenance of normal thyroid function. It is suggested that in certain patients with hypothalamic disorders, TSH is secreted in a biologically less active form.

Adolescent↗
PubMed1975

LH and FSH response to synthetic LH-RH in children and adolescents with Turner's and Klinefelter's syndrome.

Stimulation with LH-RH (luteinizing hormone-releasing hormone) was performed in 29 children and adolescents with Turner's syndrome (15 less than 13 years old), and in 11 patients with Klinefelter's syndrome (7 before puberty). Synthetic LH-RH was injected intravenously in a dose of 25 mug/m2; plasma LH and FSH were determined radioimmunologically. The results show that patients with Turner's syndrome had pathologically elevated LH and FSH values at all ages. Normal LH and FSH results before and after LH-RH were found in 3 patients with X0/XX karyotype who had spontaneous menstruation. The 2 adult patients with Klinefelter's syndrome showed an exaggerated LH response and excessively high FSH levels before and after LH-RH, consistent with hypergonadotropic hypogonadism. Six out of 7 prepubertal boys with Klinefelter's syndrome, had a normal LH and FSH response to LH-RH. Only 1 prepubertal boy with cryptorchidism and genital maliformation in addition to the Klinefelter's syndrome had pathological values. The normal gonadotropin results in prepubertal patients with Klinefelter's syndrome show that their testes apparently loose the negative feedback activity on gonadotropin secretion only during puberty, at a time when tubular hyalinization appears. This is in contrast to Turner patients with gonadal dysgenesis who have hypergondadotropic hypogonadism already early in childhood.

Adolescent↗
PubMed1975

Estrogen treatment of excessively tall girls.

40 excessively tall girls with a mean height prediction of 182 cm were treated for serious psychosocial reasons continuously with ethinylestradiol 0.3 mg daily and with norethisterone 10 mg daily for 5-7 days every 4th week. Their age at the start of treatment ranged from 9.4 to 13.8 years, and the mean duration of treatment was 1.7 years. Bone age was assessed according to the TANNER-WHITEHOUSE-II (RUS) method, and height predictions were calculated using the age-specific regression equations of TANNER et al. Results were compared with those in 9 untreated control cases. Mean reduction of predicted height in all patients was 4.6 +/- 2.4 cm, and the most marked reduction was found in the youngest group of patients. However, even in patients after menarche and with a bone age above 14 years at start of treatment, there was still a considerable reduction of adult height. Bone maturation was accelerated by treatment (1.4 years per year), and the most marked acceleration was observed during the first 6 months (1.7 years per year). Growth velocity was normal or slightly subnormal during the first 6 months and very low thereafter. During treatment, there was a considerable weight gain which was, in part, lost again when treatment was discontinued. Posttherapeutic amenorrhea was infrequent, and normal and regular menstruations reappeared in the majority of the patients about 1 month after discontinuation. It is concluded that estrogen treatment in high doses is effective in reducing adult stature in girls and that somatic and psychological side effects are minimal when treatment is started after onset of spontaneous puberty. Although early treatment tends to give better results, beneficial results may still be obtained in older patients.

Adolescent↗