Endocrine Abstracts

Summary: Simpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing the clinical, paraclinical, therapeutic and monitoring modalities of this possibly serious syndrome. A 12-year-old child from a non-consanguineous marriage consulted for tallness, mental retardation and school difficulties. The clinical examination finds a stature advance: his weight is 43 kg (+1 Standard Deviation (SD)) and his height is 168 cm (between +2 and +3 SD) with macrocephaly, facial dysmorphism made up of hypertelorism, an erased nasal root with a nasal saddle, a macrostomy with a thin upper lip, an everted lower lip with the presence of dental caries (figure 1). Furthermore, the patient presents with supernumerary breasts (figure 2), left post-axial polydactyly (image 3) and cryptorchidism. The skeletal assessment reveals rib synostosis. Ophthalmological, cardiovascular and abdominal examinations were normal. The biological and hormonal dosages are unremarkable. The genetic study suggested the diagnosis of SGBS type 1. The molecular study of the GPC3 gene showed that he carries a de novo nonsense mutation (c.271C>T: p.Gln91X), because his mother does not carry this mutation. SGBS is a rare syndrome. The spectrum of signs and symptoms associated with SGBS is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A percentage of affected males die in the newborn period, some of them probably due to heart defects. Carrier females and people with milder cases often live into adulthood. Because of the varying degrees of manifestations and severity associated with the condition, prediction of prognosis and life expectancy most likely varies on an individual basis. Intellectual disability must be carefully evaluated due to the majority of patients have normal intelligence, and do not have the coarse facial and difficulties in speech as we expected for classical SGBS. Our observation reports a new case of SGBS type 1. Despite its rarity, this syndrome requires early and, above all, multidisciplinary management in order to take care of all potential complications in time.