Does thyroglossal duct arborization play a role in the post-surgical outcome of Sistrunk procedure in children?

PURPOSE: The purpose of the present study is to analyze thyroglossal duct cyst (TGDC) histopathological features, with focus on "arborization", in a cohort of pediatric patients who underwent surgical removal, and evaluate a possible correlation with clinical recurrences. METHODS: A retrospective analysis of all patients who underwent surgical resection for TGDC at the division of Pediatric Surgery of the University of Pisa from 2015 to 2020 was performed; for each patient, the following data were recorded: age, sex, clinical presentation, localization, size of the lesion, diagnostic tools, histopathological features, perioperative complications, recurrence and follow-up. RESULTS: With respect to arborization, following histopathological analysis 25/30 patients (83.3%) presented thyroglossal duct branching. After a median follow-up of 3.5 years, only 2 out of 30 patients (6.7%), one male and one female, respectively aged 4 y.o. and 6 y.o., presented recurrence within one year from first surgery. CONCLUSION: Surgery for TGDC remains a challenge for pediatric surgeons, while arborization was present in most of our cases which underwent surgery. With respect to the role of arborization, our study did not highlight sufficient conclusive data regarding their role in recurrence: instead, it showed wide resection as satisfactory, being the arborization present in most of the cases at histopathology.

Ovarian torsion in the pediatric population: predictive factors for ovarian-sparing surgery-an international retrospective multicenter study and a systematic review.

STUDY OBJECTIVE: Ovarian torsion (OT) in pediatric age is a challenging condition to diagnose and treat. To date, there is still no clear consensus about its management. Our aim was to assess some possible associated factors that can help surgeons in decision-making. DESIGN: We conducted a retrospective multicentric study of pediatric OT surgically treated between 2010 and 2020 in six Italian and German institutions, comparing our findings with a literature review of the last 10 years (2010-2020). PARTICIPANTS: Patients aged 0-18 years with a diagnosis of OT intraoperatively confirmed and surgically treated at the involved institutions. RESULTS: Ninety-seven patients with a mean age at diagnosis of 8.37 years were enrolled in the study. Severe abdominal pain was present in 82 patients (84.5%). Eighty children (82.5%) presented an enlarged ovary with an US diameter > 5 cm and only 32 (40%) of them underwent conservative surgery. A laparoscopic approach was performed in 60 cases (61.9%) although in 15 (15.5%) conversion to open surgery was deemed necessary. A functional cyst was present in 49 patients (50.5%) while 11 children (11.3%) suffered from OT on a normal ovary. CONCLUSIONS: Our results showed that a post-menarchal age (p = .001), a pre-operative US ovarian size < 5 cm, (p = .001), the presence of severe abdominal pain (p = .002), a laparoscopic approach (p < .001), and the presence of a functional cyst (p = .002) were significantly associated with conservative surgery.

Factors associated with postoperative hypocalcemia following thyroidectomy in childhood.

BACKGROUND: Postoperative hypocalcemia is a frequent complication after thyroidectomy. Hypoparathyroidism may develop as transient (TtHP), with normalization within six months from surgery, or permanent (PtHP) if the patient requires replacement therapy. We analyzed factors associated with the development of postoperative hypoparathyroidism and in detail PtHP following thyroid surgery in a pediatric population. PROCEDURE: A retrospective multicenter study analyzing 326 patients was carried out. We recorded gender, age, tumor size, thyroiditis, extrathyroidal extension, lymph node dissection (central/lateral compartment, unilateral/bilateral), parathyroid autotransplantation, and histology. Additionally, calcium levels were acquired postoperatively. RESULTS: We analyzed pediatric patients ≤18 years who underwent thyroidectomy clustered into age groups (≤15 or > 15). Patients' mean follow-up was 5.8 years (1-11 years). Postoperative hypoparathyroidism occurred in 36 (11.0%): 20 cases (6.13%) developed PtHP. Postoperative hypoparathyroidism was more frequent in younger patients (P = 0.014), in larger tumors (P < 0.001), in case of extrathyroidal extension (P = 0.037), and in central compartment (P = 0.020) and bilateral lymph node dissection (P = 0.030). PtHP was more frequent in older patients (P = 0.014), in case of thyroiditis (P < 0.001), and extrathyroidal extension (P < 0.001). Concerning the first postoperative calcium level measurement, in the postoperative hypoparathyroidism group, we registered a 8.17 mg/dL value with 14% pre/postoperative decrease (ΔCa ), whereas in PtHP patient group calcium level was 7.91 mg/dL with 16.7% ΔCa . CONCLUSIONS: The risk of postoperative hypoparathyroidism is related to younger age, tumor size, central compartment and bilateral lymph node dissection, extrathyroidal extension, and decrease in postoperative calcium levels. The risk of PtHP is related to older age, thyroiditis, extrathyroidal extension, and decrease in postoperative calcium levels.

Increased trend of thyroid cancer in childhood over the last 30 years in EU countries: a call for the pediatric surgeon.

Given the increasing incidence of thyroid cancer cases affecting the pediatric population in Europe, an epidemiological analysis of the available data is essential in order to update standards of care and recommend diagnostic and therapeutic strategies coherent to the new epidemiological trend. An observational study was conducted, considering the time interval 1991-2012, acquiring data collected by the International Agency for Research on Cancer (IARC) through the "Cancer Incidence in 5 continents plus" (CI5 plus) project and dividing patients into four groups of age (0-4, 5-9, 10-14, 15-19 years old). Data retrieved were compared to the latest report from Global Cancer Observatory, collected through the GLOBOCAN 2020 project, dividing patients in two groups: age 10-14, 15-19. Our findings highlighted an increasing prevalence of thyroid cancer rates in patients aged from 10 to 15 years old and from 15 to 19 years old, mainly in the female population, in Belarus (from 1991 to 2007), Cyprus, and Italy (from 2008 to 2012). Moreover, a further increase in incidence was highlighted in Italy according to data from GLOBOCAN 2020, with respect to other European countries. CONCLUSION: An increasing prevalence of thyroid cancer is seen in age groups 10-19. Further research is required to understand the underlying cause and concomitantly identify the most proper screening and diagnostic techniques of thyroid nodules. Indeed, this is crucial to reach optimal surgical standards and better prognosis, possibly with more conservative approaches and maybe less postoperative complications. WHAT IS KNOWN: • Thyroid cancer is the 4th most common malignancy in children. WHAT IS NEW: • In the last decades, an increasing pattern has been recorded. • In the US, it has outlined breast cancers as the most common cancer in females.

The fat anchor orchiopexy technique: results and outcomes from 150 cases surgical experience.

PURPOSE: The purpose of the study is to evaluate results and outcomes in a long-time follow-up period, by performing a novel testicular fixation procedure, known as "fat anchor orchidopexy" (FAO), for the treatment of palpable low inguinal undescended testis. MATERIALS AND METHODS: We retrospectively reviewed all patients who underwent scrotal orchiopexy technique, from May 2013 to May 2019, at the Pediatric Surgery Division of Department of Surgical Pathology, University of Pisa (Italy). FAO (Spinelli's technique) consists in anchoring the testicles to sub-scrotal fat with a single trans-scrotal incision. All the patients enrolled had history of unilateral or bilateral undescended testis. Data collected included patient's age, operative times and complications. RESULTS: A total of 150 children with cryptorchidism were treated using a single trans-scrotal orchiopexy. Of them, 130 patients (86.7%) had unilateral undescended testis and 20 (13.3%) bilateral cryptorchidism. Mean patient's age was 21 months (range: 14-28 months). All the procedures were planned in a day-surgery setting. Trans-scrotal orchiopexy was successful in all cases and no patients required an additional groin incision. No intraoperatively and postoperatively major complications were observed. Patients' post-operative pain was mild (mean pediatric visual analog scale = 2). In all cases, the healing process was rapid and no surgical wounds infections were reported during the post-operative period, referring excellent cosmesis results. During a mean 48-month follow-up period, no testicular retraction, recurrence or testis atrophy was reported. CONCLUSION: The original Spinelli's technique (FAO) proves to be a safe and effective method for the treatment of palpable or distal-to-external-inguinal-ring testes. No immediate and delayed post-surgery complications were reported. In all cases, the anchored testicle remained in the scrotal position with normal vascularization. This novel surgical technique could give better options for scrotal fixation in case of low-lying cryptorchid testes.

Combination Strategies Involving Immune Checkpoint Inhibitors and Tyrosine Kinase or BRAF Inhibitors in Aggressive Thyroid Cancer.

Thyroid cancer is the most common (~90%) type of endocrine-system tumor, accounting for 70% of the deaths from endocrine cancers. In the last years, the high-throughput genomics has been able to identify pathways/molecular targets involved in survival and tumor progression. Targeted therapy and immunotherapy individually have many limitations. Regarding the first one, although it greatly reduces the size of the cancer, clinical responses are generally transient and often lead to cancer relapse after initial treatment. For the second one, although it induces longer-lasting responses in cancer patients than targeted therapy, its response rate is lower. The individual limitations of these two different types of therapies can be overcome by combining them. Here, we discuss MAPK pathway inhibitors, i.e., BRAF and MEK inhibitors, combined with checkpoint inhibitors targeting PD-1, PD-L1, and CTLA-4. Several mutations make tumors resistant to treatments. Therefore, more studies are needed to investigate the patient's individual tumor mutation burden in order to overcome the problem of resistance to therapy and to develop new combination therapies.

Familial Non-Medullary Thyroid Carcinoma in Pediatric Age: Our Surgical Experience.

BACKGROUND: The purpose of the article was to evaluate the existence of significant clinical, pathological and prognostic differences between familial and sporadic form of pediatric non-medullary thyroid carcinoma, in order to tailor the therapeutic strategy to be adopted for patients with family history. METHODS: We analyzed the records of 76 pediatric patients that underwent surgery for differentiated thyroid cancer from 2014 to 2019 at the Surgical Pathology Department of the University of Pisa, Italy. Among these, 20 (26,3%) had positive family history (familial non-medullary thyroid carcinoma-FNMTC group) while 56 (73.7%) were affected by sporadic forms (sporadic non-medullary thyroid carcinoma-SNMTC group). RESULTS: In our study, the correlation between the FNMTC and the SNMTC group showed no difference in terms of tumor features like multifocality, bilaterality, capsular/extracapsular invasion and the presence of vascular emboli. A statistical significance, on the other hand, was revealed by observation of clinical outcomes, such as distant metastasis (p = 0,022), persistence of disease (p = 0,054) and necessity of radioiodine sessions (p = 0,005). CONCLUSIONS: These findings suggest that family history may have an independent role on the outcome, expressing its action through an intrinsic more aggressive biological behavior. Therefore, familial non-medullary thyroid carcinoma in children represents a nosological entity that requires an accurate pre-operative evaluation, an adequate surgical strategy and a careful follow up.

Surgical management of ovarian teratomas in childhood: a multicentric study on 110 cases and a literature review.

AIM OF THE STUDY: To compare a multicentric surgical experience on ovarian teratomas in childhood with the current management trends. DESIGN: A retrospective multicentric pediatric ovarian teratomas surgically treated between January 2000 and August 2020 at four Italian institutions. PubMed database was used to search for Reviews and Systematic Reviews published between January 2010 and August 2020: 15 manuscripts reported 3633 ovarian neoplasms in pediatric age, 1219 (33,5%) of which were ovarian teratomas. RESULTS: A hundred-ten patients with a mean age at diagnosis of 11.8 years were enrolled. Mature cystic teratomas accounted for the 90% of the masses. At surgery, 78 were oophorectomies and 32 were ovary sparing surgeries. Laparoscopy occurred in 16.3% of the surgeries.As regarding the current management trends, the mean age at diagnosis was 11.9 years and 80.5% of the cases were represented by mature teratomas. Of 430 procedures, 331 were oophorectomies while 99 were ovary sparing surgeries and laparoscopy was performed in 23.8% of cases. CONCLUSIONS: Ovary-sparing surgery with laparoscopic approach is increasingly offered as standard treatment for benign masses that fit the criteria for mature teratomas, in the attempt to achieve the best compromise between the preservation of fertility and the prevention of recurrences. Awareness should be raised among pediatric surgeons to reduce unnecessary radical surgery.

Surgical Management of Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma. Experience in 25 Patients.

PURPOSE: To delineate the clinicopathologic features and biologic behavior of the diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) and to report its outcome. METHODS: The clinical records of 25 patients who had surgery for DSV-PTC from 2004 to 2017 were retrospectively analyzed. Comparisons were made to similar studies in the literature reporting ≥8 cases and a cohort of classical PTC. RESULTS: There were 20 females and 5 males with an average age of 23 years (range 10-39 years). Bilateral disease occurred in 80% of cases. The mean size of the dominant mass was 4.2 ± 1.92 cm. In 92% of cases, therapeutic neck dissection was performed. Male sex significantly correlated with a higher yield of positive lymphadenopathy (p = 0.045). 62% of patients had recurrent disease. Recurrence significantly correlated with male sex, the number of metastatic lymph nodes (cutoff: 22 lymph nodes), and multifocality (p = 0.044, p ˂ 0.008, p ˂ 0.003, respectively). However, it did not correlate with the age at presentation. No disease-specific mortality occurred after an average follow-up of 77 months (range 12-168 months). The two comparisons made demonstrated a statistically significant greater tendency of the current series of DSV-PTC toward more aggressive clinicopathologic features and biologic behavior. No differences in overall survival were observed. CONCLUSION: The DSV-PTC should be considered a high-risk PTC that mandates an aggressive therapeutic strategy with the intent of optimizing disease-free survival.

Melanoma in children, adolescents and young adults: anatomo-clinical features and prognostic study on 426 cases.

PURPOSE: This study was conducted to determine the difference in anatomo-pathological and prognostic features of cutaneous melanoma in children, adolescents and young adults. METHODS: This is a retrospective review on 383 young patients ≤ 39 years of age with cutaneous melanoma, in a period from 2006 to 2016 in Area Vasta Nord Ovest, Tuscany, Italy. We subdivided patients in three groups (children ≤ 14 years, adolescents 15-21 years, young adults 22-39 years). We correlated all the anatomo-pathological parameters with age groups. RESULTS: We identified a total of 426 cases of cutaneous melanoma on an overall total of 383 patients. Mean age at diagnosis for all the patients ≤ 39 years of age was 31.2 years: in group A was 11.2 years, in group B 19.2 years and in group C 32.5 years. Incidence, in the subjects between 0 and 14 years, is 14 cases per million inhabitants, between 15 and 21 years of 145, and between 22 and 39 years of 394. Global incidence was 1.6 case per million for group A, 8.9 cases per million for group B, 105 cases per million for group C. No statistically significative correlation could be described for clinical parameters and age groups. CONCLUSIONS: Incidence of melanoma in our casuistry results as the highest in the world. These data open new study for this kind of cancer.

Thyroid cancer in adolescents and young adults.

In adolescents and young adults, thyroid cancer accounts for 13% of all invasive neoplasms, being three times more frequent in females, but overdiagnosis and overtreatment are common. There are two therapeutic approaches, one radical and no longer preferred in all instances, and the other conservative. Permanent complications of surgery and metabolic irradiation can affect quality of life and carry an economic burden. The overall survival rate approaches 100% for patients with differentiated thyroid cancer regardless of the extent of treatment. Medullary thyroid carcinoma is a very different entity, occurring most frequently in the context of hereditary tumor susceptibility syndromes.

Update on the surgical management of ovarian neoplasms in children and adolescents: analysis on 32 cases.

This study analyzes updated clinical, diagnostic, and surgical directions for the treatment of ovarian neoplasms in children and adolescents, comparing them with a retrospective analysis of 32 cases treated in two Pediatric Surgery University Institutions. From January 2005 to December 2015, 32 pediatric patients were surgically treated for 32 ovarian tumors: 28 (87.5%) benign and 4 (12.5%) malignant neoplastic lesions. Median age at surgery was 11.2 years (12.8 years in patients with benign neoplasms, 7.25 years in patients with malignant ones). All patients with malignant and 25% of patients with benign ovarian lesions had elevated serum level of tumors markers. The surgical approach was laparotomic in 62.5% and laparoscopic in 37.5%; 81.2% surgeries were performed in elective surgery and 18.8% in emergency. Intraoperative frozen section analysis was performed in 18.75% of patients. The most frequent surgery (96.8%) was unilateral oophorectomy. After a median follow-up of 76 months (range 6-132 months), 31/32 patients are alive and disease-free. In case of malignant tumors, fertility-sparing surgery with accurate staging must be performed. Laparoscopic multiport is the gold standard approach for benign pediatric ovarian neoplasms, but the use of laparoscopy in full respect of oncological principles also for early stage malignant tumors is currently increased.

Microsurgical inguinal varicocelectomy in adolescents: delivered versus not delivered testis procedure.

INTRODUCTION: The aim of our study is to compare two different surgical procedures, lymphatic vessels and arterioles sparing microsurgical inguinal varicocelectomy (LASMIV) without delivery of the testis and LASMIV with delivery of the testis and ligature of collateral and gubernacular veins. MATERIALS AND METHODS: Seventy adolescents suffering from varicocele and reduction of the ipsilateral testicular volume greater than 20% were prospectively assigned to two homogenous groups according to age and Tanner stage. The patients, operated from 2008 to 2013, were randomized to undergo either LASMIV without delivery of the testis or LASMIV with delivery and ligature of collateral and gubernacular veins. All patients were evaluated clinically and sonographically 6 months and 12 months after surgery, to measure testicular volume and to rule out any complications or recurrences. RESULTS: The catch up growth of testicular volume is significantly higher at 6 (p value = 0.008) and 12 months (p value = 0.004) in patients treated with LASMIV with delivery. The rate of varicocele recurrence in patients who underwent the delivered maneuver is 0%, whereas is 2.8% without delivery; however this findings is not statistically significant (p value > 0.01). None of the patients of both groups presented secondary hydrocele. CONCLUSIONS: LASMIV with delivery of the testis and ligature of all collateral and gubernaculuar veins results in significantly higher left testicular catch up growth.

Adnexal torsion in adolescents: update and review of the literature.

PURPOSE OF REVIEW: Adnexal torsion is a surgical emergency, which requires immediate recognition and prompt treatment. This article aims to systematically illustrate the most relevant approach to follow in cases of suspected adnexal torsion in adolescents. We based our evaluation of the role of clinical features, laboratory tests, and imaging on recent literature, till we consider the most appropriate surgical treatment. RECENT FINDINGS: The literature describes the conservative treatment for adnexal torsion, consisting of detorsion, as the best surgical approach to guarantee the future reproductive capacity of patients. Recent experimental studies have focused on the consequences of detorsion, which may cause ischemia-reperfusion damage and have speculated about the role of different drugs for its avoidance. SUMMARY: A systematic review of physiopathology, clinical picture, and imaging of adnexal torsion is certainly useful to identify as soon as possible this emergency condition. An early identification and an adequate treatment are indispensable in order to achieve a proper outcome for the patient. The choice of the appropriate surgical approach can be challenging and should be made on the basis of an accurate evaluation of the ovarian lesion. Therefore, it would be useful to perform an intraoperative frozen section analysis in selected cases.

Treatment of ovarian lesions in children and adolescents: a retrospective study of 130 cases.

In this study, we analyze the management of ovarian masses in a total of 130 children surgically treated for 137 ovarian lesions (7 bilateral). The most frequent symptoms were chronic (52.3%) and acute (25.4%) abdominal pain. Histological examination revealed 64 (46.7%) functional lesions, 59 (43.1%) benign neoplasms, 5 (3.7%) malignant ones, and 7 (6.6%) torsed normal ovaries. Ovarian torsion occurred in 36 cases (26.27%). A conservative treatment was performed in 81 (59.1%) girls: 61 (75.3%) treated in nonemergency and 20 (24.7%) in emergency surgery; laparoscopic approach in 35 cases (43.2%); and open surgery in 46 (56.8%). The remaining 56 (40.9%) ovarian masses underwent nonconservative surgery: 40 cases (71.4%) nonemergency and 16 (28.6%) emergency; laparoscopy in 20 patients (35.7%); and open surgery in 36 (64.3%). Fertility preservation should be a goal in the surgical treatment. The management of ovarian torsion should include adnexal detorsion and recovery of the ovarian tissue. In case of benign neoplasms, laparoscopic tumorectomy should be the gold standard; in early stage malignant tumors, fertility-sparing surgery with accurate staging is preferred.

Effects on normalized testicular atrophy index (TAIn) in cryptorchid infants treated with GnRHa pre and post-operative vs surgery alone: a prospective randomized trial and long-term follow-up on 62 cases.

PURPOSE: The aim of this study was to investigate the effects of gonadotropin releasing hormone analog (GnRHa) therapy on normalized testicular atrophy index (TAIn) using gonadorelin before and after orchiopexy. METHODS: 62 infants with 87 undescended testes (UDT) were prospectively assigned to two homogeneous groups according to age, position of UDT and TAIn. The patients were randomized to receive either orchiopexy alone or orchiopexy combined with GnRHa as nasal spray at 1.2 mg daily for 4 weeks before surgery and 4 weeks after surgery. Surgical approaches were relative to the position of the UDT: Shoemakers technique in proximal-UDT and Bianchi technique in distal-UDT. All the patients were evaluated clinically and sonographically 1 month before surgery, at the time of surgery, 1 month, 6 months and 5 years after surgery. RESULTS: Ultrasound data in our study have shown a statistically significant decrease of TAIn in children given additional HT only after 5 years of follow-up, in unilateral cases and in the entirety of treated patients; in bilateral cases this difference was not statistically significant. CONCLUSION: Patients with a TAIn >20% treated with preoperative and post-operative GnRHa therapy have a significant increase in testicular volume after 5 years of follow-up, as shown by the relative reduction of TAIn values.

Cryopreserved Thyroid Tissue Autotransplant in Pediatric Age Patients: A Feasibility Study and Literature Review.

BACKGROUND AND AIMS: This paper aims to study an alternative solution to hormonal replacement therapy in specific groups of patients who underwent thyroidectomy during childhood or adulthood. After cryopreservation, thyroid autotransplantation could be an alternative solution which would allow us to use the ability of the thyroid tissue of producing hormones according to the physiological needs of the body. MATERIALS AND METHODS: A feasibility study about the effects of the most modern cryopreservation techniques on the structural and functional integrity of the follicular cells of the thyroid tissue has been carried out. Patients who could benefit from the treatment have been found for both autotransplant techniques. Additionally, a literature review has been conducted. RESULTS: The histological analysis has shown that cryopreservation does not alter the original architecture, and the culture examination that cell viability is successfully preserved. Moreover, both thyroid autotransplantation studies on animals and those on humans that were found in the literature have shown good results regarding the viability and functionality of the transplant. CONCLUSIONS: The viability of cryopreserved thyroid tissue found in this study is encouraging. Further studies to evaluate the levels of FT3, FT4 and thyroglobulin in thyroid tissue after cryopreservation are needed to verify that the secretory properties of the thyrocytes have been maintained intact. Furthermore, autotransplanted cases found in the literature do not have a long-term follow-up.

Adnexal torsion in children and adolescents: new trends to conservative surgical approach -- our experience and review of literature.

The purpose of this study is to discuss the surgical treatment for ovarian torsion in children and adolescents with a focus on the procedures of adnexal conservation surgery and its frequency in the literature of the last 10 years. We retrospectively reviewed the medical charts of 127 operative ovarian lesions including 30 ovarian torsions (23.6%) treated in two pediatric centers over a 10-year period. Age at presentation, presenting symptoms, diagnostic studies, surgical procedure and pathological findings were analyzed. Mean age was 13.7 years. Conservative surgery has been performed in 46.7% of the cases and laparoscopic approach in 40%. Ovarian torsion occurred in 56.7% on ovaries with functional lesion, in 23.3% on normal adnexa and in 20% on ovaries with benign neoplasm. The article includes a literature review (2000-2010) and a statistical analysis which shows a slow increase in conservative surgery from 28 to 45%. Laparoscopic surgery accounts for 23.5%. Literature review shows 40.5% normal adnexa, 33.2% non-neoplastic lesions, 25.3% benign neoplasms and 1% malignant neoplasms. The surgical treatment of children and adolescents presenting adnexal torsion should be practiced as an emergency and it should be more conservative as possible in order to maximize the future reproductive potential.

Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.

BACKGROUND: DiGeorge-like syndrome (DGLS) is a rare genetic disorder due to the presence of the same classical clinical manifestations of DiGeorge syndrome (DGS) without its typical deletion. In the DGLS phenotype, hypoparathyroidism seldom occurs and is considered rare. In DGS, hypocalcemia affects up to 70% of patients, and a considerable share often has asymptomatic thyroid abnormalities. CASE DESCRIPTION: In this study, we describe an unusual case of a 16-year-old patient with DGLS due to a duplication of 365 kb in the 20p11.22 region, affected by hypoparathyroidism associated with thyroid nodule. The intraoperative parathyroid evaluation ruled out agenesis as a cause of hypoparathyroidism. In addition, we carried out a thorough literature review from 2010 to 2023 of DGLS cases using specific keywords, such as "22q11.2 deletion syndrome", "DiGeorge-like Syndrome", "hypoparathyroidism", "thyroid", and "children", analyzing 119 patients with DGLS. CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.