Lutz Wünsch

Zusammenfassung: Die Transition von Jugendlichen mit Besonderheiten der Geschlechtsentwicklung (DSD) in die Erwachsenenmedizin stellt aufgrund medizinischer, psychosozialer und ethischer Anforderungen einen komplexen Prozess dar. Viele DSD-Diagnosen sind selten und in der Erwachsenenmedizin wenig bekannt, was eine strukturierte Vorbereitung unerlässlich macht.Der Artikel fasst die Anforderungen aus Leitlinien, dem Berliner Transitionsprogramm sowie klinischen Erfahrungsberichten zusammen. Anhand typischer Fallkonstellationen (z. B. Hypospadie, AGS, CAIS, Gonadendysgenesie) werden Herausforderungen, Therapieziele und notwendige Kompetenzen im Transitionsprozess dargestellt.Die Analyse zeigt, dass eine gelingende Transition von klaren Informationswegen, interdisziplinärer Zusammenarbeit, medizinischer Kontinuität und der Förderung patientenseitiger Autonomie abhängt. Zentral sind u. a. das Management hormoneller Fragestellungen, die Bewertung struktureller Genitalveränderungen, die Tumorrisikobeurteilung sowie psychosoziale Unterstützung. Barrieren bestehen häufig in mangelnder Akzeptanz der Diagnose, fehlenden Ressourcen und Wissenslücken in der Erwachsenenmedizin.Ein individualisierter Transitionsplan, ergänzt durch Epikrisen, Bildgebung und strukturierte Patientenschulungen, verbessert die Versorgung und stärkt Selbstbestimmung sowie Teilhabe der Betroffenen. Der Transitionsprozess bietet Chancen zur Reflexion früherer Behandlungsentscheidungen, zur Stärkung der Eltern und zur Weiterentwicklung des medizinischen Verständnisses von Identität, Gender und Sexualität.

Background: Optical Coherence Tomography (OCT) is a high-resolution imaging technique capable of quantifying Blood Flow at Depth (BD) and the Attenuation Coefficient (AC). However, the clinical relevance of these parameters in burn assessment remains unclear. This study investigated whether OCT-derived metrics can differentiate between superficial and deep pediatric hand burns. Method: This prospective, single-center study analyzed 73 OCT scans from 37 children with thermal hand injuries. A structured algorithm was used to evaluate AC and BD. Results: The mean AC was 1.61 mm⁻¹ (SD ± 0.48), with significantly higher values in deep burns (2.11 mm⁻¹ ± 0.53) compared to superficial burns (1.49 mm⁻¹ ± 0.38; p < 0.001), reflecting increased optical density in more severe burns. BD did not differ significantly between burn depths, although superficial burns more often showed visible capillary networks. Conclusions: This is the first study to assess both AC and BD using OCT in pediatric hand burns. AC demonstrated potential as a diagnostic marker for burn depth, whereas BD had limited utility. Image quality limitations highlight the need for technical improvements to enhance OCT’s clinical application.

Objectives: Deep thermal injuries are among the most serious injuries in childhood, often resulting in scarring and functional impairment. However, accurate assessment of burn depth by clinical judgment is challenging. Optical coherence tomography (OCT) provides structural images of the skin and can detect blood flow within the papillary plexus. In this study, we determined the depth of the capillary network in healthy and thermally injured skin and compared it with clinical assessment. Methods: In 25 children between 7 months and 15 years of age (mean age 3.5 years (SD±4.14)) with thermal injuries of the ventral thoracic wall, we determined the depth of the capillary network using OCT. Measurements were performed on healthy skin and at the center of the thermal injury (16 grade IIa, 9 grade IIb). Comparisons were made between healthy skin and thermal injury. Results: The capillary network of the papillary plexus in healthy skin was detected at 0.33 mm (SD±0.06) from the surface. In grade IIb injuries, the depth of the capillary network was 0.36 mm (SD±0.06) and in grade IIa injuries 0.23 mm (SD±0.04) (Mann–Whitney U test: p<0.001). The overall prediction accuracy is 84 %. Conclusions: OCT can reliably detect and differentiate the depth of the capillary network in both healthy and burned skin. In clinical IIa wounds, the capillary network appears more superficial due to the loss of the epidermis, but it is still present in the upper layer, indicating a good prognosis for spontaneous healing. In clinical grade IIb wounds, the papillary plexus was visualized deeper, which is a sign of impaired blood flow.

To define the morphologic pattern of pediatric hand burns as visualized via optical coherence tomography (OCT) and dynamic OCT (D-OCT). We designed a scoring system to assess the depths of burn wounds on pediatric hands and tested this score in our cohort of children with burn injuries to the hand. Overall, 67 hand burns in 48 children (0–15 years) were prospectively examined. Scans were interpreted by two independent observers. Relevant OCT findings were surface irregularity, loss of epidermis, loss of dermal pattern (skin lines or papillary spots, loss of surface regularity and irregular vascular pattern of the plexus papillaris. Score values were calculated retrospectively. A score of 4 was associated with spontaneous healing without the need for skin grafting, with a positive predictive value of 97%. Deeper wounds with delayed healing and/or the need of skin grafting received a score of 5 or above, with an agreement of medical healing in 80% and a positive predictive value of 56%. OCT and D-OCT provide clinically useful additional information in cases of pediatric hand burns. The OCT burn score has the potential to support clinical decision making and, subsequently, improve clinical outcomes and shorten hospital stays.

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in MYRF (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia. Since variants in MYRF have been described in both 46,XX and 46,XY GD, we assumed a role of MYRF in the early development of the bipotential gonad. We used publicly available single cell sequencing data of human testis and ovary from different developmental stages and analysed them for MYRF expression. We identified MYRF expression in the subset of coelomic epithelial cells at stages of gonadal ridge development in 46,XX and 46,XY individuals. Differential gene expression analysis revealed significantly upregulated genes. Within these, we identified CITED2 as a gene containing a MYRF binding site. It has been shown that Cited2^−/− mice have gonadal defects in both testis and ovary differentiation, as well as defects in heart development and establishment of the left–right axis. This makes MYRF a potential candidate as an early regulator of gonadal and heart development via upregulation of the transcriptional cofactor CITED2.

Die Kinderendokrinologie beschäftigt sich mit der Physiologie und Pathophysiologie der Synthese und Wirkung von Hormonen. Endokrine Störungen des Kindesalters können dabei primär oder sekundär im Rahmen anderer Grunderkrankungen auftreten. Viele dieser Erkrankungen sind chronischer Natur. In den letzten Jahren konnte durch die rasante Entwicklung der molekulargenetischen Diagnostik eine erhebliche Verbesserung des Verständnisses endokriner Störungen des Kindesalters erreicht werden. Gleichzeitig wurde durch technischen Fortschritt eine deutliche Verbesserung in der Versorgung von Kindern und Jugendlichen mit Diabetes mellitus erreicht. Im vorliegenden Kapitel wird ein aktueller Überblick über das Fachgebiet der Kinderendokrinologie und Diabetologie gegeben. Dieser umfasst u. a. Physiologie und Pathophysiologie von Wachstum, Pubertät, der Funktion von Schilddrüse, Nebenschilddrüse, des Kalzium-Phosphat-Stoffwechsels, der Nebenniere, der Hypothalamus-Hypophysen-Achse, der Gonaden sowie von Fehlbildungen der Genitalorgane. Ein ausführliches Kapitel behandelt die verschiedenen Formen des Diabetes mellitus im Kindes und Jugendalter.