ESPE Abstracts

The rare co-occurrence of pseudohypoparathyroidism (PHP) and Turner syndrome (TS) is few documented in medical literature. Turner syndrome manifestations often overlap with those encountered in patients with PHP, further complicating the diagnostic process, particularly in atypical presentations. This poster aims to report the case of an individual with PHP and Turner syndrome. We describe the case of an 11-month-old female, who was referred to our hospital due to dysmorphic features suggestive of Turner syndrome. On examination she exhibited webbed neck, low-set ears, broad chest with widely spaced nipples, and hypoplasia of the fourth and fifth toes. Her anthropometric mea- sures were as following: Length: 70 cm (-0,97 DS). Weight: 9,8 kg (+1 DS) BMI: 20 (+2.1 DS). Karyotype analysis revealed 45,X0, confirming the diagnosis of Turner syndrome. Radiographic examination showed short bilateral 4th and 5th metacarpals with delayed bone age and rachitic signs on knee radiography. Biochemical analysis indicated elevated TSH levels (9.66 mUI/ml), decreased T4 levels (12.6 pmol/ml), elevated levels of FSH and LH. Follow-up assessments showed hyper- phosphatemia (94 mg/l), hypocalcemia (69 mg/l) in spite of elevated serum parathyroid hormone concentrations (220 pg/ml), and low active vitamin D levels. The diagnosis of pseudohypoparathyroidism was made alongside Turner syndrome. Treatment involved calcium supplementation, calcitriol, thyroxine, growth hormone therapy and estrogens therapy to induce puberty. The association of TS and PHP can be easily missed reagarding the similar phenotypes and manifestations. In fact, the most frequent occurring karyotype, 45,X, can be accompanied by multiple problems, such as short stature, amenorrhea, skeletal and lymphatic abnormalities, hearing loss, aortic coarctation or stenosis, thyroiditis, metabolic abnormalities, renal abnormalities, and ovarian insufficiency, among others. Some of these symptoms can also be carracteristic of PHP. As a result, distinguishing between these two conditions is challenging, with genetic testing remaining the gold standard for diagnosis. In our case, it was difficult to determine whether the increased gonadotrophins and delayed onset of menstruation were due to TS or hormonal resistance. This case report underscores the co-occurrence of Turner syndrome and PHP, emphasizing the need for their recognition and further investigation.