Precocious puberty: a case report

Omaima Hammami; Ines Mezghani; Rim Marrakchi; Souhir Maalej; Faten Hajkacem; Mariem Boudaya; Kamel Jammoussi; Nabila Rekik; Mohamed Abid; Mouna Turki

doi:10.1530/endoabs.99.EP1199

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

ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)

Precocious puberty: a case report

Omaima Hammami ¹ , Ines Mezghani ¹ , Rim Marrakchi ¹ , Souhir Maalej ² , Faten Hajkacem ² , Mariem Boudaya ¹ , Kamel Jammoussi ¹ , Nabila Rekik ² , Mohamed Abid ² & Mouna Turki ¹

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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.