The aim of the study was to analyze the clinical suspicion and where patients were when they received the positive result of the neonatal screening for CAH 21OHD. The present data derived from a retrospective analysis of a relatively large group of patients with classical CAH 21OHD patients nosed by newborn screening in Madrid, Spain. During the period from 1990 to 2015 of this study 46 children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) form and 10 with simple virilizing (SV)]. In 38 patients, the disease had not been suspected before the neonatal screening result (30 SW and 8 SV). Thirty patients (79%) were at home without suspicion of any disease, as healthy children, 3 patients (8%) were at home pending completion of the study due to clinical suspicion of any disease (ambiguous genitalia, cryptorchidism) and 5 patients (13%) were admitted to the hospital for reasons unrelated to CAH (sepsis, jaundice, hypoglycemia). It is relevant to note that 69.4% of patients (25/36) with SW form were at home with potential risk of adrenal crisis. Six females had been incorrectly labeled as male at birth. The most frequent reason for clinical suspicion was genital ambiguity in women followed by family history of the disease. Neonatal screening provided better results than clinical suspicion. In the majority of patients with 21OHD the diagnosis by screening was anticipated to the clinical suspicion of the disease even in female patients with ambiguous genitalia.

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Aim: The aim of the study was to analyze the clinical suspicion and where patients were when they received the positive result of the neonatal screening for CAH 21OHD.Patients, material and methods: The present data derived from a retrospective analysis of a relatively large group of patients with classical CAH 21OHD patients nosed by newborn screening in Madrid, Spain. Results: During the period from 1990 to 2015 of this study 46 children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) form and 10 with simple virilizing (SV)]. The median age at diagnosis for the patients with SW and SV form were 8,0 (6,0 - 9,0) and 18,0 (14,5 - 37,5) days respectively (P= 0,001). The disease had been suspected before the result of the newborn screening in only 11 (23,9%) patients but had not been suspected before the screening in 35 (76,1%) patients. In 11 of the patients with clinical suspicion of the disease, 8 of them were affected by SW form (1 male with a previous brother affection and 7 females, 2 of them by previous brother affected and 5 of them with ambiguous genitalia). In only 3 patients affected by SV the disease there was clinical suspicion before the result of the screening. One of them was a boy with a previous brother affected and 2 of them were females born with ambiguous genitalia. In 35 patients the disease had not been suspected before the result of the newborn screening. Twenty-eight of them were affected by SW form and 7 by SV form. Twenty five of the 28 patients with SW form were males and 4 were females (in 3 of them had been an incorrect sex assignment at born). Six of the 7 patients affected by SV form without clinical suspicion of the disease were males and 1 was female (with genitalia classificated by degree 2 according to Prader scale). The disease was suspected in 64.3% of women (9/14) and only 6.3% of men (2/32) (p<0.001).The most frequent cause of clinical suspicion of CAH 21OHD were the presence of ambiguous genitalia in women [n = 7 (63.6%), of which 5 were SW and 2 SV form) followed by positive family history [n = 4 (36, 4%), of which 3 were SW form and 1 SV form)]. When the result of Neonatal Screening was obtained 30 positive patients (65.2%) were at home without suspicion of illness, 11 (24.0%) newborns were admitted to the hospital for different reasons before the screening results were available and 5 (10.8%) patients were at home but with hospital follow-up due to clinical suspicion of illness (2 of them due to prenatal diagnosis by a previous relative, 2 women with SW form with incorrect assignment of sex at birth, labels such as men with cryptorchidism at birth and 1 woman with SV form in study by ambiguous genitalia). Conclusions: Clinical suspicion of CAH 21OHD was clearly insufficient to diagnose this severe disorder. In the majority of patients with 21OHD detected by newborn screening, the diagnosis by screening was anticipated to the clinical suspicion of the disease even in female patients with ambiguous genitalia.

INTRODUCTION The thyroglossal duct cyst (TGDC) is the most common congenital anomaly of the neck in childhood. However, thyroid carcinoma of the thyroglossal duct cyst is rare. It occurs in less than 1% of cases and the diagnosis is usually made from histopathologic findings after cyst surgery. Papillary carcinoma is the most common histologic subtype. The management of the TGDC carcinoma is not well defined. Sistrunk procedure (resection of the cyst and hyoid bone) followed by total thyroidectomy is the classic treatment, due to frequency of concomitant thyroid cancer (20-60%). However some authors propose a more conservative management performing thyroidectomy only in certain cases (positive margins, abnormal preoperative imaging, extension of TGDC carcinoma beyond the cyst wall). Lymph node resection and radioactive iodine therapy are used on advanced stages. CLINICAL CASE A 12-year-old boy presented with a four-month history of neck swelling. There was no previous exposure to irradiation or positive family history of thyroid cancer. Physical examination revealed a 5 cm mass located in the midline region of the neck, slightly tilted to the left, above the hyoid bone, covered by normal skin. A neck ultrasound was performed showing a normal thyroid gland, and a cystic lesión compatible with a TGDC. A CT scan corroborated this finding, showing a cystic lesión of about 3.1 cm x 2.1 cm x 3.7 cm (anteroposterior, transverse and craniocaudal planes) with a small solid pole in the posterior portion of the cyst, 1x1 cm on the axial plane. Small cervical lymph nodes with no suspicious features were also described. Thyroid function tests were normal. Sistrunk operation was performed for resection of the TGDC. Histologic examination revealed papillary carcinoma in a thyroglossal duct cyst. It measured 17 mm at its maximal diameter and invaded the cyst wall 1 mm with negative margins. Consequent to the diagnosis of TGDC carcinoma, total thyroidectomy was performed on a second surgery whithout side effects. Thyroid tissue showed usual morphological features without signs of malignancy. Currently the patient undergoes levothyroxine replacement treatment.CONCLUSIONS Papillary thyroid carcinoma in thyroglossal duct cysts is rare entity and even rare in children. Given that several studies in adults show a non-negligible percentage of patients with TGDC carcinoma and a normal thyroid ultrasound who had a concomitant thyroid cancer, the most controversial part of its management is whether total thyroidectomy should be done or not. Although some groups advocate thyroidectomy only in specific cases of TGDC carcinoma, its multifocal nature and the low risk of complications of thyroid surgery in pediatric referral centers make us supporters of performing total thyroidectomy to all patients.