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HERWIG FRISCH and JOHN A. PHILLIPS III

Abstract

An 11 year old Austrian boy with isolated growth hormone deficiency type I A is described. On institution of GH therapy at the age of 2 2/12 years there was only a short growth response and anti-GH-antibodies with high binding capacity were detected, and growth was inhibited. Examination of the nuclear DNA by restriction endonuclease analysis demonstrated a defect of the GH-N gene in the patient. The results suggest the deletion in this Austrian family is different from that seen in other patients. The parents were heterozygous for the deletion and had a subnormal GH response to stimulation with arginine, but their somatomedin-C concentrations and their heights were normal. The patients' sister was of normal height, hormone analyses were normal, and the GH-N gene was not affected.

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Roman Deyssig, Herwig Frisch, Werner F Blum, and Thomas Waldhör

The effect of recombinant GH on strength, body composition and endocrine parameters in power athletes was investigated in a controlled study. Twenty-two healthy, non-obese males (age 23.4±0.5 years; ideal body weight 122±3.1%, body fat 10.1±1.0%; mean±sem) were included. Probands were assigned in a double-blind manner to either GH treatment (0.09U (kg BW)−1 day−1 sc) or placebo for a period of six weeks. To exclude concurrent treatment with androgenic-anabolic steroids urine specimens were tested at regular intervals for these substances. Serum was assayed for GH, IGF-I, IGF-binding protein, insulin and thyroxine before the onset of the study and at two-weekly intervals thereafter. Maximal voluntary strength of the biceps and quadriceps muscles was measured on a strength training apparatus. Fat mass and lean body mass were derived from measurements of skinfolds at ten sites with a caliper. For final evaluation only data of those 8 and 10 subjects in the two groups who completed the study were analyzed. GH, IGF-I and IGF-binding protein were in the normal range before therapy and increased significantly in the GH-treated group. Fasting insulin concentrations increased insignificantly and thyroxine levels decreased significantly in the GH-treated probands. There was no effect of GH treatment on maximal strength during concentric contraction of the biceps and quadriceps muscles. Body weight and body fat were not changed significantly during treatment. We conclude that the anabolic, lipolytic effect of GH therapy in adults depends on the degree of fat mass and GH deficiency. In highly trained power athletes with low fat mass there were no effects of GH treatment on strength and body composition.

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Stefan Riedl, Michael Kluge, Katharina Schweitzer, Thomas Waldhör, and Herwig Frisch

Objective

High altitude (HA) provokes a variety of endocrine adaptive processes. We investigated the impact of HA on ghrelin levels and the GH/IGF axis.

Design

Observational study as part of a medical multidisciplinary project in a mountainous environment.

Methods

Thirty-three probands (12 females) were investigated at three timepoints during ascent to HA (A: d −42, 120 m; B: d +4, 3440 m; C: d +14, 5050 m). The following parameters were obtained: ghrelin; GH; GH-binding protein (GHBP); IGF1; IGF2; IGF-binding proteins (IGFBPs) -1, -2, and -3; acid-labile subunit (ALS); and insulin. Weight was monitored and general well being assessed using the Lake Louise acute mountain sickness (AMS) score.

Results

Ghrelin (150 vs 111 pg/ml; P<0.01) and GH (3.4 vs 1.7 μg/l; P<0.01) were significantly higher at timepoint C compared with A whereas GHBP, IGF1, IGF2, IGFBP3, ALS, and insulin levels did not change. IGFBP1 (58 vs 47 μg/l; P<0.05) and, even more pronounced, IGFBP2 (1141 vs 615 μg/l; P<0.001) increased significantly. No correlation, neither sex-specific nor in the total group, between individual weight loss (females: −2.1 kg; males: −5.1 kg) and rise in ghrelin was found. Five of the subjects did not reach investigation point C due to AMS.

Conclusions

After 14 days of exposure to HA, we observed a significant ghrelin and GH increase without changes in GHBP, IGF1, IGF2, IGFBP3, ALS, and insulin. Higher GH seems to be needed for acute metabolic effects rather than IGF/IGFBP3 generation. Increased IGFBP1 and -2 may reflect effects from HA on IGF bioavailability.

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Franz Waldhauser, Herwig Frisch, Alexandra Krautgasser-Gasparotti, Edith Schober, and Christian Bieglmayer

Abstract. Recently a hypothesis has been proposed suggesting a negative feedback in the regulation of cortisol (F) and melatonin (Mel).

To study a possible influence of F on Mel regulation we examined 13 children with congenital adrenal hyperplasia (CAH) on two occasions: once 3 days after cessation of F substitution (group 1; n = 13) and once during treatment with dexamethasone (1 mg/m2/day) and fludrocortisone (0.1 mg/m2/day) (group 2; n = 11) 11 children matched by sex and age served as controls (group 3). While serum 17 OH-progesterone levels, an indicator for the activation of the hypothalamo-pituitary-adrenal axis in CAH, were significantly (P < 0.001) elevated in untreated patients (group 1), serum Mel levels were not different among the 3 groups nor was the diurnal secretion pattern of Mel affected. Nocturnal serum Mel concentrations, however, correlated with the age of the subjects (r = 0.55, P < 0.001 at 23.00 h), displaying high values in early childhood that declined with progressing age.

The presented data do not support the view of a classical feedback mechanism in the regulation of Mel and F in humans. However, it confirms the description of a tremendous fall of nocturnal Mel concentrations during childhood.

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Felix Votava, Dóra Török, József Kovács, Dorothea Möslinger, Sabina M Baumgartner-Parzer, János Sólyom, Zuzana Pribilincová, Tadej Battelino, Jan Lebl, Herwig Frisch, and Franz Waldhauser

Group-author : for the Middle European Society for Paediatric Endocrinology – Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group

Objective: Newborn screening based on measurement of 17α-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening.

Methods: Newborn screening cards of 110 CAH patients born between 1988 and 2000 in five Middle-European countries and diagnosed prior to puberty (77 SW and 33 moderate) and cards from 920 random, healthy newborn controls were analysed. CAH screening had not yet been introduced during this time. The diagnosis was based on clinical and laboratory signs and, in most cases, on CYP21 gene mutation analysis. All 17-OHP measurements in dried blood spots were carried out using a time-resolved fluoroimmunoassay kit.

Results: In the newborn screening blood spots, the median of 17-OHP levels was 561 nmol/l (range 91–1404 nmol/l) in subjects with the SW form and 40 nmol/l (4–247 nmol/l) in the moderate form. All 77 SW patients would have been detected by newborn screening using the recommended cut-off limits (30 nmol/l). However, 10 of 33 patients with moderate CAH would have been missed. 17-OHP levels of all controls were below the cut-off.

Conclusion: Newborn screening is efficient for diagnosing the SW form of CAH, but is inappropriate for identifying all patients with a moderate form of CAH. It appears that the false-negative rate is at least one-third in children with the moderate form of CAH.