Congenital adrenal hyperplasia (CAH) is well suited for newborn screening, as it is a common and potentially fatal disease which can be easily diagnosed by a simple hormonal measurement in blood. Moreover, early recognition and treatment can prevent severe salt wasting, dehydration and death and shorten the time of male sex assignment in virilised females.

Background/Aims: Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature. Methods: A short questionnaire, containing questions on auxological screening and on diagnostic criteria for short stature, was sent to all members of the European Society of Paediatric Endocrinology (ESPE) and to several pediatric endocrinologists outside Europe. Results: Responses were received from 36 countries. In 27 (75%) a child health care program existed and in 14 (39%) there was a protocol for referral of children with growth retardation. Height for age was mostly used as a referral criterion. Sixteen countries (45%) reported having a guideline in secondary health care for diagnostic work-up. Although all countries agreed on having biochemical, radiological and/or genetic tests in the diagnostic work-up, there was a wide variety of recommended tests. Conclusions: There is little consensus on referral criteria and diagnostic work-up of children with short stature among industrialized countries. There is a need to establish evidence-based guidelines.

Aim:To examine psychosocial functioning of medically referred adolescents with idiopathic short stature (ISS) or persistent short stature born small for gestational age (SGA) during 3 years of combined growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment. Methods: Thirty-eight adolescents participated in a controlled trial with GH/GnRHa treatment or no intervention. Each year the adolescents and their parents completed questionnaires and structured interviews. Multilevel analysis was used to analyze data. Results: The adolescents of the treatment group showed a worse outcome than the adolescents of the control group on 3 of 16 variables: perceived competence of scholastic (p < 0.01) and athletic ability (p < 0.05) and trait anxiety (p < 0.05). Adolescents in both the treatment and control groups perceived improved current height (p < 0.001) and self-appraisal of physical appearance (p < 0.05). The parents did not report changes in their children during treatment. Conclusion: The observation of some adverse psychological consequences as experienced by the adolescents indicates that it is useful to monitor psychosocial functioning during a combined GH/GnRHa treatment in adolescents with ISS or SGA. It is uncertain whether the hypothesized positive effects of the expected gain in final height by adulthood can sufficiently counterbalance possible short-term negative effects.

Pit-1 is a transcription factor which is expressed in the somatotrope, lactotrope, and thyrotrope cell population of the anterior pituitary gland from early fetal development throughout life. Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone. Clinical presentation at diagnosis can be variable, although all forms finally result in severe growth retardation due to GH deficiency and hypothyroidism. The clinical variability is due to other factors than the exact location of the mutation; however, the type of inheritance seems to correlate well with the genotype. Early detection of Pit-1 abnormalities might prevent the sequelae associated with some early and severe presentations of this disorder.

Euthyroid or even hypothyroid pregnant women without antithyroid medication but with a history of treatment for thyrotoxicosis, almost always a subtotal strumectomy, may still produce thyroid-stimulating immunoglobulins. This can induce fetal and neonatal thyrotoxicosis. Without treatment this results in a high fetal and neonatal mortality and morbidity. Fetal treatment by administering antithyroid drugs during pregnancy improves this prognosis remarkably. A case is described, the literature is reviewed and guidelines for diagnosis and treatment are presented.