ESPE Abstracts

Introduction: The CATCH 22 syndrome or DiGeorge syndrome or velocardiofacial syndrome, is a frequent pathology with the worldwide prevalence estimated between 1 / 2,000 and 1 / 4,000 live births. The classic clinic is characterized by typical facial features (narrow palpebral fissures, bulbous nasal tip, small mouth and ears, malar hypoplasia) with functional insufficiency of the soft palate in about 75% of those affected, difficulties in learning, language and behavior , congenital heart malformations in more than 50%, some degree of immunodeficiency (secondary to thymic aplasia / hypoplasia), greater predisposition to develop an autoimmune disease such as hypothyroidism, neonatal hypocalcemia that usually remits with age, although it may recur. Other manifestations may include gastrointestinal, kidney malformations (multicystic agenesis or dysplasia), or deafness. However, the phenotype is much more variable and the clinical spectrum continues to expand. Case Description and Course: Girl aged 7 years and 6 months at the time of the first pediatric endocrinology visit, diagnosed with CATCH 22 syndrome. Personal history: Controlled in cardiology due to intervened aortic ring, incomplete right renal duplication in pediatric nephrology follow-up ,, wearing hearing aids, velopharyngeal insufficiency in orofacial control by pediatric surgery and follow-up by pediatric neurology, normal immunological study without presenting serious infections. On physical examination in the first consultation, he presented Weight: 22 kg, height: 112.6 cm, TA 90/60 mmHg, with a female velocardiofacial Sd phenotype and tanner stage 1, the rest of the examination was normal. In the control analysis, no alterations in phospho-calcium metabolism were observed (intact PTH 16 pg/ml [14 - 100], Calcium 9.2 mg/dl [8.4 - 11], Phosphorus 5.1 mg/dl [2.5 - 6]. evolution in consultation starting thelarchy at age 11. At age 14 Tanner 4-5 associating several episodes of hypogastric abdominal pain, no menarche. Faced with recurrent episodes of abdominal pain and the presence of primary amenorrhea, an abdomino-pelvic ultrasound was requested and a gynecology consultation objectifying: absence of uterus and both ovaries slightly reduced in size for age.

Conclusions: In patients with 22q11.2 deletion syndrome, a multidisciplinary follow-up is required. Endocrine manifestations are the most frequent pathology after cardiac ones. From the endocrinological point of view, it is necessary to do a lifelong follow-up, controlling calcemia and thyroid function as the most frequently associated pathologies, but also to take into account the multiple manifestations that may present and be alert to the symptoms of primary amenorrhea since they are have described several cases of uterine agenesis in these patients.