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Background/objective: Variants in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthetase 2) present with varying degrees of brachyolmia (short trunk, platyspondyly, mild long-bone abnormalities). Our objective is to present the phenotype of male and female siblings with the same novel inactivating variant in PAPSS2 ., Case Report: A Jordanian female (case 1), born to consanguineous parents, was referred at 10 years of age for short stature (SS). She had a normal laboratory workup, including normal growth hormone stimulation testing. Spinal x-rays done for clinical scoliosis revealed platyspondyly. She attained an adult height of 143.5 cm (-3 SD). Years later, her brother (case 2) was referred at 21 months of age for SS. His laboratory workup and bone age were normal. His growth velocity declined at 6 years of age, but normal growth factors did not suggest growth hormone deficiency. When he returned during puberty, disproportionate body measurements were noted. A skeletal survey revealed platyspondyly, increasing suspicion of growth plate pathology. Exome sequencing in the family revealed a homozygous variant, p.His496Pro ( H496P ) in PAPSS2 ( NM_004670.3:c.1487A>C ). Both parents carried the same variant., Discussion: PAPSS2 assists with the sulfonation of dehydroepiandrosterone (DHEA) to DHEA sulfate and the sulfonation of proteoglycans in the cartilage, necessary for endochondral bone formation. PAPSS2 -inactivating variants present with skeletal dysplasia and elevated DHEA levels., Conclusion: This novel variant in PAPSS2 manifested with mild brachyolmia but disproportionate SS in male and female siblings. Biochemical phenotype with low circulating DHEA sulfate and high DHEA levels reflect a sulfonation defect., (© 2022 Published by Elsevier Inc. on behalf of the AACE.)

Adrenocortical tumors (ACTs) are rare in children and should be treated as malignant tumors. A 12-year-old female patient was referred to our institute for acute abdomen and hypovolemic shock. She had symptoms of virilization, including lowered voice, beard growth, and hirsutism. An elevated level of dehydroepiandrosterone sulfate was observed, and computed tomography scan showed a large left adrenal mass with massive hemorrhage. Emergency transcatheter arterial embolization was successfully performed using N-buthyl-2-cyanoacrylate as an embolic material. She underwent surgical resection on the following day. Histopathological analysis showed strong degeneration of the tumor and its necrosis, and the tumor was diagnosed as ACT of unknown grade. To our knowledge, this is the first case of a ruptured ACT treated with transcatheter arterial embolization in a pediatric patient., (© 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Dehydroepiandrosterone (DHEA) and the dehydroepiandrosterone sulfate (DHEA-S) are steroids produced mainly by the adrenal cortex. There is evidence from both human and animal models suggesting beneficial effects of these steroids for obesity, diabetes mellitus, hypertension, and osteoporosis, conditions associated with the post-menopausal period. Accordingly, we hypothesized that DHEA supplementation in ovariectomized (OVX) female rats fed a high-fat diet would maintain glucose-induced insulin secretion (GSIS) and pancreatic islet function. OVX resulted in a 30% enlargement of the pancreatic islets area compared to the control rats, which was accompanied by a 50% reduction in the phosphorylation of AKT protein in the pancreatic islets. However, a short-term high-fat diet induced insulin resistance, accompanied by impaired GSIS in isolated pancreatic islets. These effects were reversed by DHEA treatment, with improved insulin sensitivity to levels similar to the control group, and with increased serine phosphorylation of the AKT protein. These data confirm the protective effect of DHEA on the endocrine pancreas in a situation of diet-induced overweight and low estrogen concentrations, a phenotype similar to that of the post-menopausal period.