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Background Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany. Aims Description of the phenotype, evaluation of the diagnostics and genotype-phenotype correlation Patients and methodology Retrospective analysis of the data of 134 patients (age range 0.1–18.6 years) in a multicentre study covering 10 paediatric endocrinology centres in Bavaria and Baden-Württemberg. The data was gathered on site from the medical records. Two hundred and thirty-three alleles with a mutation of the CYP21A2 gene were identified in 126 patients. A genotype-phenotype correlation of the mutation findings was undertaken (C1, severe/mild; C2, mild/mild). Individuals with a heterozygous mutation of the CYP21A2 were also included (C3). The data was collected with the approval of the ethics committee of the University Hospital of Erlangen during the period of 2014 and 2015. Results (MW ± SD) One hundred and seventeen out of 134 patients (115 f, 29 m) were symptomatic. The chronological age (CA) at diagnosis was 7.1 ± 4.4 years. The most frequent symptom (73.5%) was premature pubarche. The height-SDS on diagnosis was 0.8 ± 1.3 and the BMI-SDS was 0.8 ± 1.2. Bone age (BA) was ascertained in 82.9% of the symptomatic patients. The difference between BA and CA was 1.9 ± 1.4 years. Basal 17OHP concentrations were 14.5 ± 19.1 ng/ml (18 patients Conclusion Most of the patients have symptoms of mild androgenisation. Male patients are underdiagnosed. Diagnostics are not standardised. Differences between the types of mutations are found in the hormone concentrations but not in phenotype. We speculate that further, as yet not clearly defined, factors are responsible for the development of the respective phenotypes.

The 2D:4D ratio is the quotient between the index and ring fin-ger lengths and is a non-direct indicator of androgenisation. If prenatal tes-tosterone levels in the amniotic fluid are high then the probability increases of developing lower ratio values. It has been suggested that people with au-tism spectrum disorders (ASD) and their parents may have highly andro-genised brains, and for this reason the 2D:4D ratio is used as a marker of such idiosyncrasies. This study aims to analyse if parents of people with ASD differ from the general population in several parameters of andro-genisation related to the 2D:4D ratio. The sample was composed of 43 parents of offspring with ASD and 42 controls who had the 2D:4D ratio measured, answered several trait questionnaires, and had their testosterone and cortisol levels measured. Although there were no differences between groups in the 2D:4D ratio, the left hand of the ASD parents showed greater predictive ability to explain empathy and autism quotients, coopera-tive behaviour, and cortisol levels. In addition, the severity of the symp-toms of their offspring was predicted only with male parents. The results indicate that the 2D:4D ratio could be used together with other parameters as an indicator of the likelihood of developing autistic traits in offspring.

The 2D:4D ratio is the quotient between the index and ring finger lengths and is a non-direct indicator of androgenisation. If prenatal testosterone levels in the amniotic fluid are high then the probability increases of developing lower ratio values. It has been suggested that people with autism spectrum disorders (ASD) and their parents may have highly androgenised brains, and for this reason the 2D:4D ratio is used as a marker of such idiosyncrasies. This study aims to analyse if parents of people with ASD differ from the general population in several parameters of androgenisation related to the 2D:4D ratio. The sample was composed of 43 parents of offspring with ASD and 42 controls who had the 2D:4D ratio measured, answered several trait questionnaires, and had their testosterone and cortisol levels measured. Although there were no differences between groups in the 2D:4D ratio, the left hand of the ASD parents showed greater predictive ability to explain empathy and autism quotients, cooperative behaviour, and cortisol levels. In addition, the severity of the symptoms of their offspring was predicted only with male parents. The results indicate that the 2D:4D ratio could be used together with other parameters as an indicator of the likelihood of developing autistic traits in offspring. La ratio D2:D4 es el cociente entre la longitud de los dedos índice y anular e indicador indirecto de androgenización. A mayor testosterona prenatal, incrementa la probabilidad de desarrollar una menor ratio D2:D4. Se ha sugerido que personas con trastornos del espectro autista (TEA) y sus progenitores podrían tener cerebros altamente androgenizados, por lo que se ha utilizado como marcador de tal idiosincrasia. El objetivo principal es analizar si los progenitores de personas con TEA difieren de la población general en diversos parámetros de androgenización, principalmente la ratio D2:D4. La muestra estuvo compuesta por 43 progenitores de personas con TEA y 42 controles, de los que se midieron la ratio D2:D4, cuestionarios rasgo y niveles de testosterona y cortisol en saliva. Aunque no se encontraron diferencias por grupo en la ratio D2:D4, la ratio de la mano izquierda de progenitores de personas con TEA mostró mayor capacidad predictiva para explicar los cocientes de empatía y autismo, conductas cooperativas y niveles de cortisol. Además, en los progenitores varones predijo la gravedad de los hijos. Los resultados obtenidos indican que la ratio D2:D4 podría ser empleada, junto a otros parámetros, como indicador de la probabilidad de desarrollar rasgos autistas en los descendientes.