ESPE Abstracts (2018) 89 P-P3-354

Emblematic Case CAH

Silvia Chahin & Federico Mejia


Clínica de Trastornos de Diferenciación Sexual, Bogota, Colombia


Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.

Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pro-childhood rule.

Methodology: If there is any clinical suspicion on patients with congenital adrenal hyperplasia, it is important to take into account the neonatal screening for 17 hydroxyprogesterone accompanied by an adequate recognition of genital configuration on the new-born. This ensures compliance with the provisions of the aforementioned circular.

Analysis: The absence of an adequate civil gonadal recognition generated the sanction of Circular 33 of February 24, 2015. This demonstrates that CAH demands and active, objective and a solidarity responsibility from the entire medical community.

Results: The State authorized an additional intersexual inscription to the masculine or feminine gender for patients with CAH or similar.

Conclusions: Socialize the importance of teaching the clinical diagnosis in order to perform adequate gonadal recognition as well as the urgent need to legislate the neonatal screening for 17 hydroxyprogesterone in cases related with CAH. Avoid adverse effects such as death, low stature, precocious puberty, mental deterioration and gender dysphoria in CAH cases where the patients are annotated in the sex not corresponding to their karyotype.

References: R., A., Igancio, J., C., M., E.,… E. (2017, August 01). Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa. Retrieved March, 2018, from http://www.analesdepediatria.org/en/recomendaciones-el-diagnostico-tratamiento-pacientes/articulo/S1695403316303393/ (n.d.). Retrieved March, 2018, from https://www.infobioquimica.com/wrapper/CDInterpretacion/te/bc/004.htm

Colombia, normas. Circular 33 de 24 de febrero de 2015 expedida por Director Nacional de Registro Civil de la Registraduría del Estado Civil de Colombia.

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