Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia encompasses a spectrum of autosomal recessive disorders marked by enzymatic deficiencies in cortisol biosynthesis. The prevailing etiology predominantly involves a deficit in 21-hydroxylase. This pathophysiological state gives rise to a myriad of complications, with acute adrenal insufficiency standing out as the most critical. Nevertheless, it is noteworthy that less-explored are the intricacies of additional complications, particularly those pertaining to the psycho-behavioral domain.

Case présentation: We present the case of a 16-year-old female patient who has been under medical surveillance since early childhood due to the discovery of a 21-hydroxylase block, identified in the context of precocious puberty and virilization. The patient, born of consanguineous parentage, has a a twin brother exhibiting cognitive disorders. The diagnosis of 21-hydroxylase block was established based on elevated levels of 17-hydroxyprogesterone at 10.7 ng/ml. Genetic analysis revealed a heterozygous composite mutation Q318X and duplication of exons 1, 3, 4, 6 inherited from the father, along with exon 8 duplication inherited from the mother. Pituitary imaging, however, showed no abnormalities. The patient was subsequently initiated on appropriate replacement therapy. In addition to the endocrine manifestations, she exhibits psychomotor retardation, language disorders, and challenges in socialization. She has also experienced recurrent major depressive episodes, necessitating ongoing psychiatric management.

Discussion: Deficiency in 21-hydroxylase can manifest as either a salt-wasting or a simple virilizing form. Both forms have the potential to result in cognitive impairment. The relationship between hormones and cognition is intricate and lacks a clear definition. The disturbance of the hypothalamic-pituitary- adrenal axis characteristic of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is likely to affect brain development, yet neuroanatomic work is only beginning. Specific learning disabilities have been rarely reported in congenital adrenal hyperplasia. The impact of hormones on cognition is still not clearly defined, but it is postulated that females with this condition have excess prenatal androgen stimulation, which increases the risk for cognitive impairment. Furthermore, numerous studies have reported a high prevalence of anxiety and depressive disorders among patients with congenital adrenal hyperplasia, notably attributed to challenges in gender identity. Elevated levels of corticotropin-releasing hormone have also been documented in various episodes of melancholic depression. Cognitive and psychiatric disorders should be systematically investigated from the initial diagnosis of congenital adrenal hyperplasia.