Endocrine Abstracts

Background: William-Beuren region duplication syndrome (WBDS) is a rare multisystem disease caused by the gain on chromosome 7q and transmitted autosomal dominant, with approximately a population frequency of 1 in 13,000-20,000. The age of diagnosis is variable, but generally, it is diagnosed during childhood. It include endocrine (growth hormone deficiency) and non-endocrine (facial dysmorphology, cardiovascular problems, gastrointestinal and genitourinary problems, neurological problems, behavioral and psychiatric disorders) abnormalities.

Case: A 60-year-old female patient applied to our outpatient clinic with fatigue. She had a history of irregularly applying to another endocrinology clinic and using hydrocortisone and levothyroxine with the diagnosis of panhypopituitarism. We confirmed the diagnosis of panhypopituitarism with retrospective laboratory tests evaluation. She had primary amenorrhoea but never received hormone replacement. She had a hepaticojejunostomy due to Caroli’s disease and was frequently diagnosed with cholangitis, which sometimes becomes a clinical manifestation of adrenal insufficiency. On physical examination, her height: was 145 cm, weight: was 42 kg, body mass index: was 19.9 kg/m², and she had no secondary sex characteristics. In addition, the patient’s epiphyseal openings are still not closed. She had some characteristic facial features, including a round face, full cheeks, and thick lips. In retrospective examinations, it was seen that pituitary tissue was not seen, and the sella turcica was smaller than usual on the pituitary magnetic resonance imaging (MRI). The uterus and ovaries were absent on the pelvic computer tomography. She had also basal ganglion calcification on brain MRI, but had not hypercalcemia. Bisphosphonate treatment was started for her because of osteoporosis. A cardiac examination revealed intermittent ventricular extrasystole and moderate tricuspid regurgitation. In order to determine the genetic background of the patient, a molecular karyotyping test was performed with the microarray method on the Illumina iScan platform. Although the mutation causing the gain in the detected 7q11.23 region overlaps with WBDS, the common and different clinical reflections of our case and WBDS are compared in Table.1

Conclusions: GH deficiency, shown at a rate of 9% in the literature, was also present in our case. WBDS patient with panhypopituitarism was not found in the literature but was described in limited cases of WBS deletion syndrome. WBDS patients may present with variable clinics, but facial features may be suspicious for diagnosis. A complete endocrine evaluation aimed at detecting abnormalities of hypothalamus-pituitary-thyroid and adrenal axes and multisystem evaluation for other endocrinological abnormalities should be considered.

Keywords: William-Beuren Duplication Syndrome, Panhypopituitarism,