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Endocrine Abstracts (2024) 99 EP1199 | DOI: 10.1530/endoabs.99.EP1199

1Hedi Chaker University Hospital, Biochemistry Departement, sfax, Tunisia; 2Hedi Chaker University Hospital, Endocrinolgy Departement, sfax, Tunisia


Introduction: Precocious puberty is characterized by the onset of signs of puberty before the usual age and can be caused by various etiologies. Congenital adrenal hyperplasia represents a rare cause of precocious puberty. Our aim was to report a case of a child with precocious puberty.

Observation: A 4-year-old and 11 months patient, from a consanguineous marriage, hospitalized in the endocrinology department for precocious puberty. The clinical examination found a child in good general condition, a bone age of 13 years, a stature advancement of +1 standard deviations (SD) and the presence of a dysmorphic syndrome including a rounded forehead, an enlarged nose, almond-shaped eyes, micrognathism, retrognatism, slight hypotelorism, and bilateral ulna valgus. The hormonal assessment shows a high testosterone level of 3.25 nmol/l. The 17-OH progesterone was highly elevated (20 ng/ml), cortisol at 8 a.m: 51.3 ng/mL, FSH: 0.6 mIU/ml, LH is low, less than 0.1 mIU /ml, androstenedione was elevated to 0.11 ng/mL and SDHEA was increased to 7.58 µg/mL. The diagnosis of congenital adrenal hyperplasia linked to a 21 OH adrenal enzyme block was made, the genetic study is in progress and the patient received hydrocortisone at a reducing dose of 10 mg/m2/day, divided into 2 taken.

Conclusion: congenital adrenal hyperplasia due to enzymatic block represents a complex clinical cause that requires a careful diagnostic and therapeutic approach. This disorder, although rare, can lead to early manifestations of puberty, posing significant challenges for healthcare professionals.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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