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Heinrich G. Haas, Heinz Affolter and Ulrich C. Dubach

ABSTRACT

  1. In 1962 Copp et al. (1962) demonstrated a second, plasma calcium lowering factor from the parathyroid glands called calcitonin. These findings were subsequently confirmed by Kumar et al. (1963). Up to the present, however, calcitonin has not been demonstrated in man.

  2. In a patient with hypocalcaemic tetany the injection of a commercial parathyroid extract caused the same changes in plasma calcium as described by Copp et al. (1962) in dogs, i. e. an initial fall and a subsequent rise in the calcium level. In addition, changes in plasma magnesium paralleling those of calcium were also observed.

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C Brachet, E Boros, S Tenoutasse, W Lissens, G Andry, P Martin, P Bergmann and C Heinrichs

Objective

Familial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperparathyroidism. It is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR).

Design

We report the case of a 16-year-old patient with hypercalcaemia and a mixed family history of parathyroid adenoma and mild hypercalcaemia. Serum calcium was 14 mg/dl with a serum iPTH of 253 pg/ml.

Results

A neck 99mTc-sesta MIBI tomoscintigraphy showed a definite hyperactivity in the left upper quadrant. A surgical four-gland exploration confirmed a single parathyroid adenoma. After surgical resection of a left superior parathyroid adenoma, the patient's hypercalcemia improved but did not normalize, returning to a level typical of FHH. An inactivating mutation in exon 4 of the CASR gene, predicting a p.Glu297Lys amino acid substitution was found.

Conclusions

Thus, this 16-year old patient presented with the association of FHH and a single parathyroid adenoma. The young age of the patient and the association of parathyroid adenoma and FHH in his grandmother argue for a causal link between CASR mutation and parathyroid adenoma in this family. This case contributes to illustrate the expanding clinical spectrum of CASR loss-of-function mutations.

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U. E. Heinrich, D. S. Schalch, M. H. Jawadi and C. J. Johnson

ABSTRACT

Employing a sensitive competitive protein binding assay for NSILA (non-suppressible insulin-like activity), circulating levels of this somatomedin (SM) have been measured throughout pregnancy, at parturition, and in foetal and newborn sera. Acid-dissociable serum NSILA (mean ± sem) in 57 women was significantly higher during pregnancy (1106 ± 46 μU/ml), than in 11 adult non-pregnant control subjects (844 ± 22 μU/ml), but not correlated with week of gestation or with serum growth hormone (GH) or cortisol levels. At parturition, the NSILA concentration in 28 cord sera (598 ± 38 μU/ml) was significantly less than in the corresponding maternal sera (1039 ± 63 μU/ml). The NSILA levels in 23 premature newborns (370 ± 20 μU/ml) and 8 smallfor-gestational-age newborns (310 ± 46 μU/ml) were significantly less than in 33 term newborns (494 ± 18 μU/ml). Serum NSILA in 56 term and premature newborns exhibited a significant positive correlation both with gestational age and birth weight but not with serum GH or cortisol levels. These data suggest that the maternal-foetal growth-promoting system is a highly complex one in which NSILA levels both in maternal and foetal circulations appear to be under multifactorial control.

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A. R. Pérez, C. Peña, E. Poskus, A. C. Paladini, H. M. Domené, A. S. Martínez and J. J. Heinrich

Abstract. The appearance of anti-human growth hormone (hGH) and anti-non-hGHs antibodies in 27 patients with idiopathic hypopituitarism, treated for periods of 6—18 months with three different preparations of hGH, was investigated.

The preparations induced antibodies to GH in 21 out of the 27 patients: 10 patients produced exclusively an anti-non-hGH response, whereas 11 generated both anti-non-hGH and anti-hGH antibodies. The levels of antibodies against hGH had low correlation with decreased growth velocity, whereas those for the antibodies against non-hGHs did not correlate with decreased growth velocity.

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J. P. Bourguignon, C. Heinrichs, G. Van Vliet, M. Vandeweghe, M. Vanderschueren-Lodeweyckx, P. Malvaux, M. Du Gaju, M. Craen, L. Lambrechts, M. Delire and C. Ernould

Abstract. In 12 patients (11 girls, 1 boy) with central precocious puberty and 4 patients (3 girls, 1 boy) with idiopathic short stature treated for 1 year with a GnRH superagonist, buserelin (0.3 mg intranasally, 4 times a day), a variable degree of inhibition of sex steroid secretion and pubertal development was observed. Regression of breast or genital development required a daily dosage of buserelin ≥ 34 μg/kg. After 3, 6, 9 and 12 months of treatment, the serum oestradiol level in the girls was positively related (r = 0.69) to basal serum LH measured at the same time and to change in breast development during the previous 3 months. In contrast, LH response to GnRH was very low in all the patients and not related to the degree of oestradiol inhibition. Height velocity and bone age velocity during the year of treatment showed no significant correlation with mean oestradiol level. Bone age velocity during treatment was inversely related to bone age at onset of buserelin. These data show that 1) the pituitary gonadal suppression during intranasal administration of buserelin is variable and dose-dependent; 2) gonadotropin response to GnRH is not a sensitive indicator of incomplete pituitary suppression during buserelin treatment; and 3) bone age velocity during treatment is more reduced the more advanced bone age is at onset of treatment.

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M Thomas, G Massa, M Craen, F de Zegher, JP Bourguignon, C Heinrichs, J De Schepper, M Du Caju, G Thiry-Counson and M Maes

OBJECTIVE: Since the availability of recombinant human growth hormone (rhGH) all children with growth hormone deficiency (GHD) living in Belgium are offered rhGH treatment after approval by a peer-review board. In this study, we evaluated the prevalence and demographic features of childhood GHD in Belgium during the period 1986-2001 and we compared them with the data from other countries. METHODS: Diagnostic, demographic and baseline auxological data of 714 children diagnosed as having GHD between 1986 and 2001 were retrieved from the database of the Belgian Study Group for Paediatric Endocrinology. RESULTS: The prevalence of GHD in Belgium was estimated to be 1/5600. The origin of GHD was idiopathic (idGHD) in 41% of the patients, congenital (congGHD) in 20% and acquired (acqGHD) in 35%. During the first 4 years (1986-1989) more patients were classified as idGHD; thereafter the distribution between the three aetiology groups did not change. In all groups, boys outnumbered girls but this preponderance was especially pronounced in congGHD patients (male:female=4:1) with a central malformation that associates an anterior pituitary hypoplasia, a missing, fine or normal pituitary stalk and an ectopic posterior pituitary. Thirteen percent of the patients with idGHD, 50% with congGHD and 52% with acqGHD had multiple pituitary deficiencies. Patients with congGHD were the youngest (mean+/-s.d. age: 6.5+/-4.7 years) and were the shortest (-3.0+/-1.3 standard deviation score (SDS)) at the start of rhGH treatment. There was no time trend over the studied period for age and height at onset of GH therapy. CONCLUSION: In Belgium, the prevalence of childhood GHD can be estimated as 1/5600 which is comparable to other recent surveys. The yearly number of new patients for the different aetiologies and the auxological parameters have remained relatively constant over the last 16 years.

Open access

C T Fuss, M Treitl, N Rayes, P Podrabsky, W K Fenske, D A Heinrich, M Reincke, T-O Petersen, M Fassnacht, M Quinkler, R Kickuth and S Hahner

Objective

Adrenal vein sampling (AVS) represents the current diagnostic standard for subtype differentiation in primary aldosteronism (PA). However, AVS has its drawbacks. It is invasive, expensive, requires an experienced interventional radiologist and comes with radiation exposure. However, exact radiation exposure of patients undergoing AVS has never been examined.

Design and methods

We retrospectively analyzed radiation exposure of 656 AVS performed between 1999 and 2017 at four university hospitals. The primary outcomes were dose area product (DAP) and fluoroscopy time (FT). Consecutively the effective dose (ED) was approximately calculated.

Results

Median DAP was found to be 32.5 Gy*cm2 (0.3–3181) and FT 18 min (0.3–184). The calculated ED was 6.4 mSv (0.1–636). Remarkably, values between participating centers highly varied: Median DAP ranged from 16 to 147 Gy*cm2, FT from 16 to 27 min, and ED from 3.2 to 29 mSv. As main reason for this variation, differences regarding AVS protocols between centers could be identified, such as number of sampling locations, frames per second and the use of digital subtraction angiographies.

Conclusion

This first systematic assessment of radiation exposure in AVS not only shows fairly high values for patients, but also states notable differences among the centers. Thus, we not only recommend taking into account the risk of radiation exposure, when referring patients to undergo AVS, but also to establish improved standard operating procedures to prevent unnecessary radiation exposure.

Free access

Daniel A Heinrich, Christian Adolf, Lars C Rump, Ivo Quack, Marcus Quinkler, Stefanie Hahner, Andrzej Januszewicz, Jochen Seufert, Holger S Willenberg, Nina Nirschl, Lisa Sturm, Felix Beuschlein and Martin Reincke

Objective

Primary aldosteronism (PA) is the most common endocrine form of arterial hypertension. The German Conn’s Registry’s purpose is to improve treatment outcomes of PA. We assessed whether key clinical, biochemical and epidemiological characteristics of newly diagnosed PA cases have changed over time, potentially indicating a different screening and referral practice in Germany evolving from 2008 to 2016.

Design

The German Conn’s Registry is a multicenter database prospectively analyzing morbidity and long-term outcome of patients with PA.

Methods

Phenotypic changes between three year periods were calculated using Mann–Whitney U tests and Kruskal–Wallis tests for independent variables.

Results

Over three time periods from 2008 to 2016, we noted a relative decrease of unilateral PA cases (67 vs 43%). Significantly more females were diagnosed with PA (33 vs 43%). Median daily defined drug doses decreased (3.1 vs 2.0) in the presence of unchanged SBP (150 vs 150 mmHg), plasma aldosterone (199 vs 173 ng/L) and PRC (3.2 vs 3.2 U/L). Median ARR values decreased (70 vs 47 ng/U) and median potassium levels at diagnosis (3.5 vs 3.7 mmol/L) increased as the percentage of normokalemic patients (25 vs 41%), indicating milder forms of PA.

Conclusions

Our results are in accordance with an increased screening intensity for PA. We identified a trend toward diagnosing milder forms, increasingly more females and less unilateral cases of PA.