ESPE Abstracts

Introduction: Congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, is an autosomal recessive pathology that represents 5 to 8% of congenital adrenal hyperplasia. The predominant symptoms of this disorder are androgen excess’ features, including masculinization of female newborns and precocious puberty in male children. Approximately, two thirds of patients also have hypertension, which may or may not be associated with mineralocorticoid excess, hypokalemia, and metabolic alkalosis. This observation reports the case of a child raised as a male, with congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, discovered as part of an exploration of a precocious pseudo puberty with high blood pressure and hypokalemia.

Observation: B.M is a 9 years old patient, from a second-degree consanguineous marriage, with an assigned male sex. B.M was brought up as a boy, he had a personal medical history of rheumatic fever and a similar case with his German cousin has been described. His height was 136 cm (-1DS), Tanner was A5P5S1 with bilateral unpalpable testes. BP: 170 / 120 mmHg. Karyotype test result was 46 XX, and laboratory examination showed: a high value for ACTH: 374 pg/ml, testosterone: 4,3 ng/ml delta 4-androstenedione: 126.4 nmol/l and Deoxycorticosterone (DOC): 1448 pg/ml. Ovaries and a uterus fundus, without abnormalities were found on USG examination. CT showed a homogeneous bilateral adrenal Hyperplasia. Transthoracic ultrasound: concentric left ventricular hypertrophy, minimal mitral regurgitation, minimal aortic insufficiency. Bone age study corresponded to 17-year-old male. The primary psychiatric expertise affirmed that the child is oriented towards the male phenotype and her parents chose to keep him as a male. The orientation of child’s sex will be reassessed after one year of psychiatric follow up. Removal of internal genitalia and wide hysterectomy before puberty will be, therefore, discussed.

Discussion: Late diagnosis of Congenital adrenal hyperplasia of the overrenal is a problem of sexual orientation so diagnosis and antenatal treatment are essential to avoid the virilization of the feminin sex fetus. So, the absence of testicles in the apparent scrotum and inguinal canal after physical examination is worth noting; had it been identified from the time of birth, it could have led to an early diagnosis and avoided the dilemma of dealing with a mismatch between chromosomal and assigned sex at a later age. The challenge is to ensure good growth in the soil and soil between androgen hyperstimulation and corticoid therapy and to ensure a good quality of life.