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C Heinrichs

Publications and source records attributed to C Heinrichs.

At least 55 records · Page 3Linked to original sources
PubMed1994

Dexamethasone increases growth hormone receptor messenger ribonucleic acid levels in liver and growth plate.

Glucocorticoid inhibits linear growth and renders target tissues, particularly liver and growth plate, insensitive to GH. We hypothesized that glucocorticoid-induced GH insensitivity is due to decreased gene expression of the GH receptor at the messenger RNA (mRNA) level. To test this hypothesis, we treated 4.5-wk-old male rabbits (n = 6-9 per group) with ip dexamethasone or vehicle and measured GH receptor mRNA levels (by RNase protection assay) and serum GH-binding protein levels (by radioimmunoprecipitation assay). Contrary to our hypothesis, dexamethasone administered in growth-suppressing doses did not decrease GH receptor mRNA levels in liver or growth plate. Instead a tissue-specific stimulation of GH receptor mRNA levels was observed. The dose-response relationship of this effect was biphasic, since the lower growth-suppressing dose of dexamethasone (0.1 mg/kg.day) caused the greater increase in GH receptor mRNA levels, whereas the higher growth-suppressing dose (4 mg/kg.day) had less effect. The dexamethasone-induced increase in GH receptor mRNA was observed in growth plate and liver, target tissues important for linear growth, but not in kidney. Serum GH-binding protein levels also showed a stimulatory response to dexamethasone treatment, with a biphasic dose-response relationship. These data suggest that glucocorticoid-induced GH insensitivity cannot be explained by decreased GH receptor mRNA levels. To the contrary, dexamethasone causes a tissue-specific stimulation in GH receptor mRNA levels with a biphasic dose-response relationship.

Animals↗
PubMed1994

Blood spot follicle-stimulating hormone during early postnatal life in normal girls and Turner's syndrome.

Although FSH has previously been found to be elevated during infancy in agonadal subjects, it is not known whether perinatal FSH levels are also increased. Neonatal blood spot FSH levels were studied retrospectively in nine full term girls born with Turner's syndrome and compared with presumably normal full term girls born the same week. FSH was measured using a highly specific immunoradiometric assay adapted to blood spots collected at the time of systematic neonatal screening. On day 5-6 after birth, FSH was undetectable (< 1 IU/L) or low (1-4.4 IU/L) in normal girls. Among the nine patients with Turner's syndrome, five had FSH levels below 3 IU/L, and four showed slightly elevated levels, ranging from 4.3-10.9 IU/L. These differences in FSH secretion were not related to differences in karyotype. Among five patients studied longitudinally during the first 6 weeks of life, three showed increases in FSH levels to 14.9-15.9 IU/L during the second week of life. However, this increase was comparable to that seen in some normal girls sampled on a second occasion during the first weeks after birth. One patient with Turner's syndrome still had low FSH (2.5 IU/L) on day 23, but showed some increase to 8.5 IU/L on day 30. We conclude that 1) in Turner patients, perinatal changes in FSH secretion are similar to those in normal girls, although there is already a lack of feedback control by gonadal hormones on the hypothalamo-pituitary axis; and 2) the FSH assay cannot be used for neonatal screening of Turner's syndrome.

Female↗
PubMed1994

Growth hormone therapy in Turner's syndrome: one versus two daily injections.

In 44 girls with Turner's syndrome, aged 4.0-15.3 yr, the effects of biosynthetic GH (25 U/m2.week) given as once daily or twice daily injections were compared. During 1 yr of treatment, the growth rate increased similarly by 3.5 +/- 1.3 cm/yr in the once daily group and 2.7 +/- 1.8 cm/yr in the twice daily group. Although pretreatment height velocity was negatively related to age, the increase in height velocity during therapy was not. The mean progression in bone age (TW2-RUS method), during therapy was 1.3 yr in both groups. No significant change in the median insulin secretory response to an oral glucose tolerance test was found. Serum cholesterol and triglyceride concentrations did not change significantly throughout the study in either treatment group. Thyroid hormone concentrations remained within normal limits. Normal increments in left ventricular wall thickness and left ventricular mass for age and body surface were observed after 1 yr of GH treatment. We conclude that division of the daily GH dose given to Turner's syndrome patients into two injections does not result in either a significantly different growth response or different side-effects from once daily treatment during the first year of therapy.

Adolescent↗
PubMed1993

Effects of human growth hormone therapy on melanocytic naevi.

Melanocytic naevi may grow more rapidly during human growth hormone (hGH) therapy. With standardised skin photographs, the growth rate of the naevi was two-fold greater in 14 hypopituitary and 5 Turner's syndrome girls treated with hGH than in untreated patients or controls. HMB-45 immunoreactivity, a marker of stimulated melanocytes, was absent in naevi from 18 of 19 individuals not treated with hGH, including 5 Turner's syndrome patients studied 2-43 months after stopping hGH. In naevi from 39 hGH-treated patients, 22 showed unusual HMB-45 reactivity in dermal naevocytes. During administration of hGH, melanocytic naevi grow faster and there is reversible stimulation of naevocytes.

Adolescent↗
PubMed1993

MRI in seven cases of Rathke's cleft cyst in infants and children.

Seven MRI observations of presumed Rathke's cleft cysts in infants and children are reported. Age ranged between 6 months and 13 years. Size of the cysts ranged between 4 and 20 mm. While 3 small cysts were detected incidentally, 4 were large enough to cause symptoms secondary to compression of the pituitary gland and suprasellar components. The MRI appearance of the Rathke's cleft cysts varied according to their nature. MRI provides a major contribution to the diagnosis of these lesions; nevertheless, it often remains difficult to differentiate complex Rathke's cleft cysts from cystic craniopharyngiomas. The difficulties related to this differentiation are discussed.

Adolescent↗
PubMed1993

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown.

Abnormalities, Multiple↗
PubMed1993

Influence of spontaneous or induced puberty on the growth promoting effect of treatment with growth hormone in girls with Turner's syndrome.

OBJECTIVE: The aim was to evaluate the effect of 3 years treatment with recombinant human growth hormone (rhGH) on height velocity and height in girls with Turner's syndrome (TS) and to study to influence of spontaneous or induced puberty on the growth promoting effect of rhGH. PATIENTS AND DESIGN: The investigation was performed in 36 girls with Turner's syndrome treated for 3 years with rhGH in a dose of 1 IU/kg week, administered as daily subcutaneous injections. Fifteen patients remained prepubertal throughout the observation period (Group 1). During the first 2 years of rhGH therapy, four girls developed puberty spontaneously (Group 2). During the 3rd year of rhGH treatment puberty was induced with 100 ng/kg day ethinyl oestradiol orally in 17 girls requesting pubertal development and with a bone age of at least 11 'years' (Group 3). RESULTS: During the first year of rhGH therapy height velocity increased significantly in all patients. Mean +/- SD height velocity was higher in the four patients with Turner's syndrome who developed spontaneous puberty than in 17 age-matched girls with Turner's syndrome without puberty (8.9 +/- 1.2 vs 7.4 +/- 1.2 cm/year; P < 0.05). During the second and third year of rhGH treatment height velocity decreased in all patients but remained above baseline levels. The induction of puberty with 100 ng/kg day ethinyl oestradiol in the patients of Group 3 did not lead to an acceleration of height velocity, but seemed in contrast to decelerate height velocity. After 3 years of rhGH treatment, 21 out of 36 patients have obtained a height at or above the initially calculated projected adult height and five girls are already taller than 150 cm. CONCLUSIONS: The onset of spontaneous puberty during the first years of rhGH treatment seems to have an additive effect to rhGH on height velocity. Induction of puberty with oral administration of 100 ng/kg day ethinyl oestradiol did not have any beneficial effect on height velocity and seems therefore not to be the optimal way to induce puberty with an adequate pubertal growth spurt in girls with Turner's syndrome under rhGH therapy. Different doses and routes of oestrogen administration have to be evaluated in order to mimic the growth promoting effect of spontaneous puberty as well as possible.

Adolescent↗
PubMed1993

Effects of 17 months treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome.

OBJECTIVE: With the availability of recombinant insulin-like growth factor-I (recIGF-I), it was possible to study whether this peptide could promote growth without noticeable side-effects in patients with growth hormone insensitivity syndrome (Laron syndrome). We report data obtained before and during 17 months treatment using recIGF-I, 40 micrograms/kg s.c. twice a day, in two Lebanese siblings. PATIENTS: The boy and the girl showed very short stature (-6.8 and -6.1 SDS), high GH (79 and 147 IU/I), low plasma IGF-I (0.12 and 0.18 U/ml) and undetectable GH-binding protein. Height velocities were 4.3 and 3.8 cm/year before treatment which started at 8.4 and 6.8 years of age, respectively. RESULTS: After 1-8 weeks of therapy, biological evidence of IGF-I effect was obtained from reduction in serum GH and increase in procollagen-I. During the first 6 months of treatment, height velocity increased to 7.8 and 8.4 cm/year without any clinical evidence of side-effects. Between 6 and 12 months, growth response decreased to 6.6 and 6.3 cm/year. Between 12 and 17 months, growth rate returned to pretreatment values. Changes in bone mineral density paralleled growth response and bone maturation increased by 1.5 and 2.0 years during the first 12 months of treatment. Daily assessment of blood sugar showed asymptomatic low values (< 2.8 mM/I) in 11/730 and 22/730 measurements in the boy and the girl, respectively. CONCLUSIONS: Treatment of two patients with growth hormone insensitivity syndrome using 40 micrograms/kg of IGF-I twice a day resulted in increased linear bone growth and bone mineralization as well as increased bone maturation without remarkable adverse events. After 1 year of therapy, growth response could no longer be observed in these two patients.

Bone Density↗
PubMed1993

[Bilateral rupture of the quadriceps tendon--case report and review of the literature].

We report a very rare case of bilateral simultaneous rupture of the quadriceps tendons in a 64-year-old patient following a minor trauma. The reconstruction of the ruptured tendons was achieved by intertwined PDS-sutures which were supportively fixed in the patellae. After wound healing, the patient was mobilized in his two casts which were applied for 6 weeks. After the period of one year, a satisfactory result could be seen. We report the etiology, pathogenesis, diagnosis, therapy and postoperative treatment which are described in the literature.

Follow-Up Studies↗
PubMed1992

Thyroid dyshormonogenesis: severe hypothyroidism after normal neonatal thyroid stimulating hormone screening.

We report four children who presented no evidence of primary hypothyroidism in the neonatal period, either clinically (normal growth velocity) or biochemically (normal plasma levels of thyroid stimulating hormone and/or thyroid hormone). However, in early childhood, these children developed severe hypothyroidism due to dyshormonogenesis. We conclude that apparently normal thyroid function in the neonatal period does not preclude the development of severe hypothyroidism due to thyroid dyshormonogenesis later in childhood.

Age Factors↗
PubMed1992

[Naevus follicularis keratosus: clinical aspects, histology and histogenesis].

The clinical, histological and histogenetic aspects of naevus follicularis keratosus (NFK) ("naevus comedonicus") are reported. Clinically, NFK appears mostly as linear and unilateral groups of dark comedo-like plugs. Clinical forms include variants with minimal and distinctive deviations from the basic form. Recurrent inflammation is not mandatory. Histological examination reveals keratin-filled infundibula, with granular layers that are always present but though not always equally obvious. This finding corresponds to the mode of keratinization in the follicular infundibulum. Overall, the findings are indicative of a harmartoma of the follicular infundibulum with additional rudimentary sebaceous glands.

Adolescent↗
PubMed1991

Treatment of delayed puberty and hypogonadism in girls.

The therapeutic management of female delayed puberty depends more on the objectives than on the underlying cause. We will have to consider the development of sex characteristics, the occurrence of menarche and the promotion of growth. In this paper, we will review how girls with delayed puberty of different etiologies can benefit from the following therapeutic alternatives: follow-up without hormonal therapy; administration of growth hormone, anabolic steroids (e.g. oxandrolone) or estrogens and progestogens, and psychological support.

Adolescent↗
PubMed1991

Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.

Partial androgen insensitivity syndrome (PAIS) is an X-linked disorder resulting from defects in the intracellular androgen receptor (AR). The cloning of the AR cDNA has provided the molecular tools to identify gene abnormalities. Gene deletions being the exception in PAIS, prenatal diagnosis of PAIS resulting from a single base mutation in high risk families is not practical unless the mutation is already known. Brown et al. (1989) reported that 10% of normal X chromosomes present a Hind III 6.7/3.5 kb polymorphism. In this study, we report the association of the Hind II polymorphism in a woman whose son has a PAIS associated with a very low androgen receptor concentration: we differentiated the two maternal X chromosomes and characterized the affected allele. These data demonstrate that the presence of Hind III polymorphic fragments could be used in prenatal diagnosis of androgen insensitivity syndrome in high risk families.

Alleles↗
PubMed1991

[Combined arterial bypass operation and coumarin therapy--a concept for long-term management and its conditions].

Antithrombotics of cumarin type or with antiplatelet effect are preferred to obtain results from vascular surgical interventions in arterial occlusion disease. In our experience the combination with cumarin long term therapy seems to be the better method, especially if the following conditions can be achieved: very good compliance of patients respectively strict consideration of absolute and relative contraindications, a sufficient number of patients who are treated and a long enough experience of therapeutists followed by using the recommendations of the WHO expert committee for the worldwide application of standardization in measuring the anticoagulation effect, using reagents and calibration materials, and the expression of results in INR. Further in our anticoagulation behaviour we are used influencing risk factors, having a good cooperation between patients and doctors during secondary diseases and new drug intake. For dental surgery we prefer a Quick test between 30 and 35% activity or 1, 9 and 2, 1 INR. With Phenprocoumon (Falithrom, Markumar) we use the long term anticoagulation effect without several daily applications. Since September 1987 there has been the possibility of a computer assisted programme for dose prediction.

Adult↗
PubMed1990

Growth-promoting effect of growth hormone and low dose ethinyl estradiol in girls with Turner's syndrome.

Forty patients with Turner's syndrome, aged 5.0-16.6 yr, were randomly allocated to receive daily sc injections of recombinant human GH (hGH) at a dose of 1 IU/kg.week alone (group I) or in combination with 25 ng/kg.day ethinyl estradiol (E2; group II). The mean pretreatment height velocity was 3.8 cm/yr for both groups. During the first year of treatment height velocity increased significantly (P less than 0.001) in both groups, to 7.5 +/- 1.3 and 8.1 +/- 1.6 cm/yr, respectively. The difference between the two groups was not significant. The mean (+/- SD) height velocity expressed as the SD score for chronological age (Turner references) was 0.0 +/- 1.2 for group I and 0.2 +/- 1.4 for group II and increased significantly (P less than 0.001) during the first year of treatment to +4.3 +/- 1.1 in group I and +5.4 +/- 1.2 in group II. The difference between both groups was statistically significant (P less than 0.01). Height SD score for chronological age (Turner references) increased from -0.2 +/- 0.9 to +0.6 +/- 1.0 in group I and from -0.2 +/- 1.0 to +0.7 +/- 1.1 in group II. Mean bone age progressed similarly in both treatment groups (1.1 +/- 0.6 yr during 1 yr of treatment). However, bone age maturation accelerated more rapidly in younger patients. Twelve girls (three in group I and nine in group II) had minor breast development. No major adverse effects were reported. We conclude that daily sc therapy with hGH stimulates height velocity in Turner's syndrome. The beneficial effect on height velocity increment of E2 addition was small. Furthermore, even very low doses of E2 may induce breast development at an early age and accelerate bone maturation. For these reasons, the addition of E2 to hGH is not warranted in young patients with Turner's syndrome.

Adolescent↗
PubMed1990

[Contribution of MRI in 5 cases of central diabetes insipidus].

Five cases of central diabetes insipidus demonstrate the potential of MRI to explore the hypothalamohypophysial axis. The diversity of the detected pathologies are illustrated: abnormal signal of the posterior pituitary in an idiopathic diabetes insipidus, lobar prosencephaly, malignant teratoma (embryonal carcinoma), histiocytosis X, craniopharyngioma.

Child↗
PubMed1989

[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].

The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.

Abnormalities, Multiple↗