ABSTRACT
It has been known for more than 20 years that early treatment of maldescended testicles can have a positive effect on fertility and a negative effect on the development of tumors. In certain circumstances, hormone therapy is still recommended in German-speaking countries. However, its benefit is still controversially discussed. Therapy is usually initiated by the pediatrician, who is usually the first to detect undescended testicles. Since therapy may involve early hormone therapy as well as surgery, acceptance among pediatricians and also the parents may be reduced. The question also arises as to how far the implementation is practicable. In patients with nonpalpable testis, there are many controversies concerning the value of ultrasound investigations. In the following two case studies, the treatment decisions for undescended testes in infancy are exemplified. Furthermore, the available evidence from the literature and guidelines is presented to provide assistance for daily routine care and to critically discuss potential fields of application and limitations of existing guidelines.
Subject(s)
Cryptorchidism/diagnosis , Testis , Humans , Infant , Inguinal Canal/pathology , Male , Palpation , Research Design , Secondary Prevention , Testis/embryology , UltrasonographyABSTRACT
BACKGROUND: The German study group for quality assurance in pediatric endocrinology and the University of Ulm have established a software ("Hypo Dok") for the documentation of longitudinal data of patients with congenital primary hypothyroidism (CH). Aim of this study was to analyse the long-term follow-up of patients with CH and to compare treatment with current guidelines. METHODS/PATIENTS: Anonymised data of 1,080 patients from 46 centres were statistically analysed. RESULTS: Newborn screening result was available at a mean age of 7.3 days. Confirmation of the diagnosis was established at 8.4 days and therapy was started at 11 days. The average screening TSH was 180.0 mIU/L. During the first 3 months mean levothyroxine (LT4) dose was 10.7 µg/kg/day or 186.0 µg/m²/day. Weight-, BMI- and height-SDS did not differ significantly from the normal population. Only 25% of the patients (n=262) underwent formal EQ/IQ-testing. Their average IQ was 98.8 ± 13.2 points. DISCUSSION: In Germany screening, confirmation and start of treatment of CH are within the recommended time frame of 14 days. Initial LT4-doses are adequate. The auxological longterm outcome of young CH patients is normal. The implementation of standardized IQ testing has to be improved in routine patient care. CONCLUSION: Longitudinal data of patients with CH was analysed and compared to current guidelines. Confirmation and start of treatment are according to the recommendations. However standardised IQ testing requires improvement.
Subject(s)
Congenital Hypothyroidism/drug therapy , Long-Term Care , Registries , Software , Thyroxine/therapeutic use , Congenital Hypothyroidism/diagnosis , Female , Germany , Guideline Adherence , Humans , Infant , Infant, Newborn , Intelligence/drug effects , Longitudinal Studies , Male , Neonatal Screening , Quality Assurance, Health Care , Treatment OutcomeABSTRACT
The ankyloblepharon filiforme adnatum is a congenital eyelid anomaly in which the development of the eyelids is completed but the eyelids are not completely separated at birth. The abnormality can occur as an isolated anomaly, together with other eye diseases or in the context of systemic syndromes. In this case report the current classification and essential diagnostics of AFA will be reviewed.
