[Normal and pathologic puberty].
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Child↗
Biomedical subjects
Raja Brauner
Publications and source records attributed to Raja Brauner.
Parathyroid function and growth in 22q11.2 deletion syndrome.
OBJECTIVE: To determine the frequency and expression of hypoparathyroidism and the factors of short stature in 22q11.2 deletion syndrome to optimize clinical care. STUDY DESIGN: Cross-sectional study of 39 patients 9.7 +/- 0.8 (2.5-20) years of age. RESULTS: The congenital abnormalities were cardiac defects in 33 of 39, thymus hypoplasia in 15 of 18 evaluated, and craniofacial dysmorphy in all; 15 patients (39%) had had one or more seizures. Before evaluation, 12 patients were hypocalcemic, with (n = 4) or without clinical manifestations, diagnosed before 1 month in 10 cases, at 3 months or 12 years in two others. At evaluation, 9 patients were hypocalcemic, 5 of 9 had been hypocalcemic, and 8 others had parathyroid hormone (PTH) concentrations low for their ionized calcium. One had high PTH without hypocalcemia and 2 were hypercalcemic. The values were below -2 SD at birth for weight and/or height in 26% of cases and at evaluation for height and body mass index in 23% and for insulin-like growth factor-I in 37%. CONCLUSIONS: Parathyroid function was abnormal in 27 of 39 (69%) patients. This was not diagnosed in the majority. Short stature was probably due to intrauterine growth restriction, underweight, and growth hormone deficiency, as suggested by low insulin-like growth factor I.
Abnormalities, Multiple↗
Adult height after cranial irradiation for optic pathway tumors: relationship with neurofibromatosis.
OBJECTIVE: Optic pathway tumors decrease adult height by central precocious puberty (PP) or hypothalamic-pituitary disorders, particularly growth hormone (GH) deficiency caused by the tumor, management of the tumor, or associated neurofibromatosis 1. The objective of this study was to evaluate the respective roles of these factors on disorders and adult height. STUDY DESIGN: Thirty-five patients with optic pathway tumors diagnosed at 6.4 +/- 0.6 years treated by cranial irradiation (30-56 Gy) reached adult height after treatment with GH alone (n = 16), gonadotropin hormone-releasing hormone analogue alone (n = 2), or both (n = 16). RESULTS: Central precocious puberty occurred before irradiation in four cases and after irradiation in 18. Eleven of the 17 patients with neurofibromatosis 1 had PP. Before irradiation, five of 21 patients lacked GH, zero of 21 lacked thyroid-stimulating hormone, and zero of 13 lacked adrenocorticotropin. After irradiation, 35 of 35 lacked GH, 28 of 35 lacked thyroid-stimulating hormone, and six of 35 lacked adrenocorticotropin; puberty was delayed in 15 patients. Adult height was -0.8 +/- 0.2 SD, below target height (0.2 +/- 0.2 SD, P <.0001), similar in patients with and without PP, but lower in those with neurofibromatosis 1 (-1.4 +/- 0.4 SD) than in those without (-0.3 +/- 0.3 SD, P =.04). CONCLUSIONS: Optic pathway tumors cause PP, but cranial irradiation causes most of the other hypothalamic-pituitary disorders. Adult height of patients given GH or gonadotropin hormone-releasing hormone analogue seems to depend on neurofibromatosis 1.
Body Height↗
Growth hormone deficiency caused by pituitary stalk interruption in Diamond-Blackfan anemia.
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Anemia, Diamond-Blackfan↗
Factors predicting adult height in girls with idiopathic central precocious puberty: implications for treatment.
OBJECTIVES: To optimize the indications for treating girls with idiopathic central precocious puberty with GnRH analogues, since outcomes may vary. DESIGN: Comparison of adult heights with the data at initial evaluation and the target heights. PATIENTS: Group 1 patients (n = 43) were treated with GnRH analogue from 7.9 +/- 0.2 years to 10.8 +/- 0.1 years (bone age: 10.3 +/- 0.2 years to 12.2 +/- 0.1 years) and group 2 patients (n = 29) were monitored without treatment because their predicted adult heights were > 155 cm. The criteria for treatment were a predicted height < 155 cm and/or a LH/FSH peaks ratio of > 0.6. RESULTS: At initial evaluation, group 1 patients had greater breast development (P = 0.001) and bone age advances (2.0 +/- 0.2 years) than those of group 2 (1.3 +/- 0.2 years, P < 0.3), and higher plasma oestradiol concentrations (139 +/- 11 pmol/l vs. 62 +/- 7 pmol/l, P = 0.0001), LH peak (12.2 +/- 1.8 IU/l vs. 5.8 +/- 2.2 IU/l, P = 0.0001) and LH/FSH peaks ratio (1.3 +/- 0.2 vs. 0.5 +/- 0.1, P = 0.0001). The predicted height for group 1 at the onset of treatment (156 +/- 1.2 cm) was lower than the adult height (159.5 +/- 0.8 cm, P = 0.002), but the two were similar (164.1 +/- 1.2 cm vs. 162.7 +/- 0.9 cm) for group 2. In group 1, the difference between these heights (mean 3.4 cm) was positively correlated with the bone age advance (r = 0.51, P = 0.001), but not with chronological or bone ages, oestradiol, LH peak, LH/FSH peaks ratio before treatment or its duration. It was 5.3 +/- 1.2 cm in the 28 patients with a bone age advance of > 2 years and 0 +/- 1.3 cm in the other 15 (P < 0.02). It was 6.1 +/- 1.3 cm in the 24 patients with predicted height < 155 cm, and -0.1 +/- 1.1 cm in the other 18 (P = 0.002). The 72 patients included nine who attained an adult height over 5 cm shorter than the target height (seven treated and two untreated). The seven treated subjects included two who had retarded intrauterine growth. CONCLUSIONS: Treatment of girls with idiopathic central precocious puberty with GnRH analogues produced a mean height increase of 3.4 cm between the predicted and adult heights. The increase was greater for girls with a bone age advance of > 2 years and a predicted height < 155 cm. Adult height is spontaneously preserved in the slowly progressing form. The classical and slowly progressing forms can be distinguished by the degrees of breast development and bone age advance.
Adult↗
Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities.
OBJECTIVE: To identify predictors of central precocious puberty (CPP) that reveal central nervous system (CNS) abnormalities in girls with CPP. METHODS: A retrospective cohort study was conducted of all girls younger than 8 years with breast development related to CPP, seen between 1982 and 2000, in a university pediatric hospital in Paris, France. For a pilot population (186 idiopathic, 11 revealing CNS abnormalities), the accuracy of the Lawson Wilkins Pediatric Endocrine Society recommendations were evaluated. Potential clinical, radiological, and biological predictors of CNS abnormalities were assessed by univariate and multivariate analyses. A diagnosis tree aiming for 100% sensitivity for the detection of CNS abnormalities was constructed and was tested on a validation population (39 idiopathic, 3 revealing CNS abnormalities). RESULTS: Applying the Lawson Wilkins Pediatric Endocrine Society recommendations, 2 of 11 girls with CPP that revealed CNS abnormalities would not have been considered to require brain imaging. Independent predictors of CNS abnormalities were age at onset of puberty <6 years (adjusted odds ratio [AOR]: 6.7; 95% confidence interval [CI]: 1.5-29), lack of pubic hair at diagnosis (AOR: 7.7; 95% CI: 1.8-33), and estradiol >110 pmol/L (AOR: 4.1, 95% CI: 1.0-17). The diagnosis tree that was constructed on the basis of these predictors had 100% sensitivity and 56% specificity for the validation population. CONCLUSION: The identification of girls who have CPP and require cerebral imaging seems possible on the basis of validated, simple, and reproducible predictors: age and estradiol. However, this process needs to be tested on other populations.
Age of Onset↗