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Article
Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome
We describe a 2-month-old boy with penoscro- tal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogen...
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Article
The quality of life in adult female patients with congenital adrenal hyperplasia: A comprehensive study of the impact of genital malformations and chronic disease on female patients life
Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexua...
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Article
Rapid occurrence of thelarche and menarche induced by hydrocortisone in a teenage girl with previously untreated congenital adrenal hyperplasia
A 14-year-old girl with untreated simple virilizing congenital adrenal hyperplasia presented with absent breast development. She had not had menarche. During treatment with hydrocortisone, breasts progressed f...
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Article
119 HIGH FREQUENCY OF CLASSICAL 21-HYDROXYLASE DEFICIENCY (CAH) IN MALAYSIA
Neonatal screening programs in Caucasian populations of Europe, North America, New Zealand as well as in Japan have established the incidence of CAH to be on an average 1:14,000, with few exceptions (native Al...
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Article
Die Genetik der menschlichen Geschlechtsdetermination und ihre Störungen
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Article
90 MEASURED FINAL HEIGHT AND TARGET HEIGHT IN BOYS WITH CONSTITUTIONAL GROWTH DELAY
There is considerable dispute as to whether boys with constitutional growth delay (CGD) do reach their target height (mid-parental height + 6.5cm). To answer this question, patients with short stature and CGD ...
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Article
117 PRENATAL TREATMENT OF A GIRL WITH 21-HYDROXYLASE DEFICIENCY (CAH)
The possibility of prenatal diagnosis of CAH by steroid determinations and HLA ty** in amniotic fluid and the knowledge that Dexamethasone (Dexa) crosses the placental barrier induced attempts on prenatal tr...
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Article
81 DEMONSTRATION OF MINERALOCORTICOID RECEPTOR DEEICIENCY IN TWO SIBLINGS WITH PSEUDOHYPOALDOSTERONISM(PH)
Aldosterone(A) binding sites have been demonstrated in human mononuclear leucocytes(HML).The measurement of the mineralocorticoid binding capacity of these receptors could be a valuable tool to assess states o...
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Article
85 SIGNIFICANCE OF THE ADRENALS AND THE TESTES FOR THE PRODUCTION OF TESTOSTERONE (T) AND ANDROSTENEDIONE (A) DURING MALE INFANCY
We previously reported high concentrations of T in infantile testes during the first 4 months of life and a sharp decline thereafter corresponding well to the plasma concentrations of T in this age group. Test...
