hrp0098p3-243 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Aphallia: a case report

Taazibt Akli , Berkoune Fatma , Ouki Halla , Chanegriha Mounira

Aphallia is a very rare congenital anomaly of urogenital tractus, it's rarely described, only hundred cases are reported in world literature. We report a case of A.B 2 months old who presents an aphallia in male with well developed testicles, the urethral meatus is opening to the anterior wall of the anal sphincter, ultrasound examination showed the absence of the penis and the corpora cavernosa, confirmed by the magnetic imaging. The radiological explorations of digestiv...

hrp0098p2-163 | Growth and Syndromes | ESPE2024

Noonan Syndrome: About 21 cases

Iabbassen Malek , Bendjebbour Fayçal , Berkoune Fatma , Ouki Halla , Taazibt Akli , Chanegriha Mounira , Bensalah Meryem

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RASā€“MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...