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It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice of TRT in boys included in the I-DSD Registry. All participating centres in the I-DSD Registry that had boys between 10 and 18 years of age and with a condition that could be associated with hypogonadism were invited to provide further information in 2019. Information on 162 boys was collected from 15 centres that had a median (range) number of 6 boys per centre (1.35). Of these, 30 (19%) from 9 centres were receiving TRT and the median (range) age at the start was 12.6 years (10.8–16.2), with 6 boys (20%) starting at

The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for paediatric diabetes patients in Ukraine.We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 66 patients from 65 unrelated families with diabetes diagnosed within the first 6 months of life (neonatal diabetes, n=36) or between 6 and 9 months (early-onset diabetes, n=30).We determined the genetic etiology in 86.1% of patients (31/36) diagnosed before 6 months and in 20% (6/30) diagnosed between 6 and 9 months. Fourteen individuals (37.8% of those with a genetic cause identified) had activating heterozygous variants in ABCC8 or KCNJ11. An additional ten individuals had pathogenic variants in the INS or GCK genes, whilst 4 had 6q24 transient neonatal diabetes. Rare genetic subtypes (including pathogenic variants in EIF2AK3, GLIS3, INSR, PDX1, LRBA, RFX6 and FOXP3) were identified in nine probands (24.3% of solved cases), 6 of whom died. In total, 8 individuals died between infancy and childhood, all of them were diagnosed before 6 months and had received a genetic diagnosis.In the last decade, the increased availability of comprehensive genetic testing has resulted in increased recognition of the contribution of rare genetic subtypes within pediatric diabetes cohorts. In our study, we identified a high mortality rate among these patients.

Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of GCK-MODY is benign and does not require treatment, but is important to be aware of, particularly in females where it has implications for managing pregnancy. We present three cases of neonatal hyperglycemia resulting from a heterozygous mutation in GCK, illustrating its clinical presentation and evolution in early life. In summary, as with adults, neonatal hyperglycemia is an incidental finding, does not require treatment and has no adverse consequences for health. Neonates and their parents should be referred for genetic testing to confirm the diagnosis, avoid a label of diabetes and enable pregnancy counseling for females found to be affected.

Objectives To determine trends in clinical practice for individuals with DSD requiring gonadectomy. Design Retrospective cohort study. Methods Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist centre; and location of centre from cases reported to the International DSD Registry and who were over 16 years old in January 2019. Results Data regarding gonadectomy were available in 668 (88%) individuals from 44 centres. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centres in 351/668 cases (53%). Females were more likely to undergo gonadectomy (n = 311, P < 0.0001). The indication for gonadectomy was reported in 268 (76%). The most common indication was mitigation of tumour risk in 172 (64%). Variations in the practice of gonadectomy were observed; of the 351 cases from 36 centres, 17 (5%) at 9 centres had undergone gonadectomy before their first presentation to the specialist centre. Median age at gonadectomy of cases from high-income countries and low-/middle-income countries (LMIC) was 13.0 years (0.1, 68) years and 16.5 years (1, 28), respectively (P < 0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. Conclusions The likelihood of gonadectomy depends on the underlying diagnosis, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all forms of DSD will allow a better understanding of the variation in the practice of gonadectomy.

Introduction Medullary thyroid carcinoma (MTC) accounts for 5-10% of all thyroid cancers and up to 30% of MTCs are hereditary. Only 0.6% of MTCs are associated with a paraneoplastic ACTH-dependent Cushing's syndrome (CS) (PMID: 16029131). Even rarer are MTCs without a primary intra-thyroidal tumor. Here we describe a patient with metastatic MTC without a known primary intrathyroidal tumor presenting with paraneoplastic ACTH-dependent CS. Clinical Case A 47-year-old Ukrainian man was referred to our center for management of metastatic MTC. During evaluation of refractory diarrhea two years earlier, an elevated serum calcitonin (1758 pg/mL, normal: Biochemical testing revealed elevated serum calcitonin (158,535 pg/mL, normal: The patient was unfortunately not eligible for any ongoing local clinical trials on RET-mutated cancer therapies. After extensive discussion with the patient, a palliative approach was pursued. The cervical lymphadenopathy and right femoral shaft metastasis were treated with external beam radiation. Diarrhea was controlled with loperamide. Cushing's syndrome was initially managed with metyrapone and ketoconazole, followed by bilateral adrenalectomy and hydrocortisone and fludrocortisone replacement. Conclusion Sporadic metastatic MTC can rarely present without an intrathyroidal primary tumor and may originate from ectopic C-cells. Paraneoplastic syndromes such as Cushing's syndrome can be observed in MTC due to ectopic-ACTH production. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Background/Objective: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with transient or persistent hypoglycemia. Histologically, focal, diffuse, and atypical forms of CHI exist, and at least 11 disease-causing genes have been identified. Methods: We retrospectively evaluated the treatment and outcome of a cohort of 40 patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark, from January 2000 to May 2017. Results: Twenty-two patients (55%) could not be managed with medical monotherapy (diazoxide or octreotide) and six (15%) patients developed severe potential side effects to medication. Surgery was performed in 17 (43%) patients with resection of 66% to 98% of the pancreas. Surgically treated patients had more frequently K ATP-channel gene mutations (surgical treatment 12/17 vs conservative treatment 6/23, P =.013), highly severe disease (15/17 vs 13/23, P =.025) and clinical onset '30 days of age (15/17 vs 10/23, P =.004). At last follow-up at median 5.3 (range: 0.3-31.3) years of age, 31/40 (78%) patients still received medical treatment, including 12/17 (71%) after surgery. One patient developed diabetes after a 98% pancreatic resection. Problematic treatment status was seen in 7/40 (18%). Only 8 (20%) had clinical remission (three spontaneous, five after pancreatic surgery). Neurodevelopmental impairment (n = 12, 30%) was marginally associated with disease severity (P =.059). Conclusions: Persistent, non-focal CHI remains difficult to manage. Neurological impairment in 30% suggests a frequent failure of prompt and adequate treatment. A high rate of problematic treatment status at follow-up demonstrates an urgent need for new medical treatment modalities.

AIMS: To update and extend a previous cross-sectional international comparison of glycaemic control in people with type 1 diabetes.METHODS: Data were obtained for 520,392 children and adults with type 1 diabetes from 17 population and five clinic-based data sources in countries or regions between 2016 and 2020. Median HbA1c (IQR) and proportions of individuals with HbA1c < 58 mmol/mol (RESULTS: Median HbA1c varied from 55 to 79 mmol/mol (7.2 to 9.4%) across data sources and age groups so a pooled estimate was deemed inappropriate. OR (95% CI) for HbA1c < 58 mmol/mol (CONCLUSIONS: Glycaemic control of type 1 diabetes continues to vary substantially between age groups and data sources. While some improvement over time has been observed, glycaemic control remains sub-optimal for most people with Type 1 diabetes.

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidism and hypospadias at birth. One child had testis located in the pelvis in the position of normal ovaries, while the other child had testis which were located in the inguinal canals (bilateral inguinal cryptorchidism). Exome sequencing revealed a compound heterozygous variant in the AMHR2 gene c.1388G>A, p.R463H and c.1412G>A p.R471H. To our knowledge, hypospadias has not been described in association with PMDS.

The birth of a child with disorders of sex development (DSD) requires a long term surveillance and treatment strategy conducted by a multidisciplinary group of professional physicians, with a mandatory understanding of the psychosocial problems of the child and parents.Materials and methods. For the period from 2014 to 2018, a diagnosis of gender identity was conducted in 20 children and adolescents with DSD aged from 1.5 to 17 years. For the definition of gender identity, the methodology of "Homunculus", gender socialization — the method of spontaneous drawing of Wartegg, internal family relations — the method "My family", the method of structured interviews were used. The assessment of intra-family relations was conducted in comparison with the control group, which consisted of 28 families in which healthy children were raised. A molecular cytogenetic study was conducted for all patients with DSD before psychological evaluation.Results and discussion. Among the examined children, chromosomal DSD was diagnosed in 6 (35.29 %), 46,XY DSD — in 13 (65.0 %) and 46,XX DSD — in 1 (5.0 %) patients. Diagnosis of DSD was established for children of different ages ­ from birth to 16 years, on average, 7,26 [1,50; 13,00] years. In 60,0 % of children over the age of 7 years, signs of disorders of gender identity were detected, significantly more in children aged 7—12 (p < 0.05). Disordersof gender identity developed significantly more often in children who were registered in the female civil society — at 57.14 %. In the group of children with 46, XY DSD, signs of gender identity impairment were observed at 69.23 %, which is significantly more frequent than in patients with chromosomal DSD — in 50.0 % of cases (p < 0.05). In 25.0 % of families, children have often been criticized, and parents are negatively assessed, which impaired the formation of a child’s gender identity. 54.25 % of families with a child having DSD did not seek to give birth to subsequent children because of fear of genetic disorders in them. The frequency of divorces in the families of children with DSD increases with the age of children and the largest (30.0 %) in the group of patients olderthan 12 years (p < 0.05), which is significantly more in comparison with the control group (p < 0.05). Violations of intra-family relations in families of children with DSD are significantly more frequent than in the control group families (p < 0.05).Conclusions. The psychological support of children with DSD and their families is an important component of comprehensive medical and social rehabilitation., Рождение ребенка с нарушением развития пола (НРП) требует долгосрочной стратегии наблюдения и лечения, которая проводится мультидисциплинарной группой врачей-профессионалов, с обязательным пониманием психосоциальных проблем ребенка и его родителей. Материалы и методы. За период 2014—2018 гг. проведена диагностика гендерной самоидентификации у 20 детей и подростков с НРП в возрасте от 1,5 до 17 лет. Для определения гендерной самоидентификации использовалась методика «Гомункулюс», гендерной социализации — методика самопроизвольного рисунка Вартегга, внутрисемейных отношений — методика «Моя семья», методика структурированного интервью. Оценка внутрисемейных отношений была проведена по сравнению с группой контроля, состоявшей из 28 семей, в которых воспитывались здоровые дети. Всем пациентам с НРП до момента психологической оценки было проведено молекулярно-цитогенетическое обследование. Результаты и обсуждение. Среди обследованных детей хромосомное НРП диагностировано у 6 (30,0 %), 46,XY НРП — у 13 (65,0 %) и 46,XX НРП — 1 (5,0 %) пациента. Диагноз НРП устанавливали детям в разном возрасте — от рождения до 16 лет, в среднем в 7,26 [1,50; 13,00] года. У 60,0 % детей старше 7 лет выявлены признаки нарушений гендерной самоидентификации, достоверно выше у детей 7—12 лет (р < 0,05). Нарушение гендерной самоидентификации развиваются достоверно чаще у детей, которые были зарегистрированы в женском гражданском поле, — у 57,14 %. В группе детей с 46,XY НРП-признаки нарушений гендерной самоидентификации наблюдались в 69,23% случаев, что достоверно чаще, чем у больных с хромосомным НРП, — в 50,0 % (р < 0,05). В 25,0 % семей дети часто подвергались критике, негативной оценке со стороны родителей, что ухудшает формирование гендерной самоидентификации ребенка. 54,25% семей, имеющих ребенка с НРП, не стремились рожать следующих детей из-за опасений возможных генетических нарушений у них. Частота случаев разводов в семьях детей с НРП возрастает с возрастом детей и наибольшая (30,0 %) — в группе больных старше 12 лет (р < 0,05), достоверно чаще по сравнению с группой контроля (р < 0,05). Нарушения внутрисемейных отношений в семьях детей с НРП встречаются достоверно чаще, чем в семьях группы контроля (р < 0,05). Выводы. Психологическое сопровождение детей с НРП и их семей является важной составляющей комплексной медицинской и социальной реабилитации., Народження дитини з порушенням розвитку статі (ПРС) потребує довгострокової стратегії спостереження та лікування, що проводиться мультидисциплінарною групою лікарів-професіоналів, з обов’язковим розумінням психосоціальних проблем дитини та ії батьків.Матеріали та методи. За період 2014—2018 рр. проведено діагностику гендерної самоідентифікації у 20 дітей та підлітків із ПРС віком від 1,5 до 17 років. Для визначення гендерної самоідентифікації використовувалась методика «Гомункулюс», гендерної соціалізації — методика мимовільного малюнка Вартегга, внутрішньосімейних відносин — методика «Моя сім’я», методика структурованого інтерв’ю. Оцінка внутрішньосімейних відносин була проведена в порівнянні з групою контролю, яка складалась із 28 сімей, в яких виховувались здорові діти. Всім пацієнтам із ПРС до моменту психологічної оцінки було проведено молекулярно-цитогенетичне дослідження.Результати та обговорення. Серед обстежених дітей хромосомне ПРС діагностовано у 6 (30,0 %), 46,XY ПРС — у 13 (65,0 %) та 46,XX ПРС — у 1 (5,0 %) пацієнта. Діагноз ПРС встановлювали дітям у різному віці — від народження і до 16 років, у середньому в 7,26 [1,50; 13,00] року. У 60,0 % дітей старше 7 років виявлено ознаки порушень гендерної само­­ідентифікації, достовірно вище у дітей віком 7—12 років (р < 0,05). Порушення гендерної самоідентифікації розвиваються достовірно частіше у дітей, які були зареєстровані в жіночій громадянській статі, — у 57,14 %. У групі дітей із 46,XY ПРС- ознаки порушень гендерної самоідентифікації спостерігались у 69,23 %, що достовірно частіше, ніж у хворих із хромосомним ПРС, — у 50,0 % випадків (р < 0,05). У 25,0 % сімей діти часто зазнавали критики, негативної оцінки з боку батьків, що погіршує формування гендерної самоідентифікації дитини. 54,25 % сімей, що мають дитину з ПРС, не прагнули народ­жувати наступних дітей через побоювання щодо ймовірних генетичних порушень у них. Частота випадків розлучень у сім’ях дітей із ПРС зростає з віком дітей і найбільша (30,0 %) — у групі хворих після 12 років (р < 0,05), що достовірно частіше порівняно з групою контролю (р < 0,05). Порушення внутрішньосімейних відносин у сім’ях дітей із ПРС зустрічаються достовірно частіше, ніж у сім’ях групи контролю (р < 0,05). Висновки. Психологічний супровід дітей із ПРС та їхніх сімей є важливою складовою комплексної медичної та соціальної реабілітації.

Background In congenital hyperinsulinism (CHI), preoperative prediction of the histological subtype (focal, diffuse, or atypical) relies on genetics and 6-[18F]fluoro-l-3,4-dihydroxyphenylalanine (18F-DOPA) PET–CT. The scan also guides the localization of a potential focal lesion along with perioperative frozen sections. Intraoperative decision-making is still challenging. This study aimed to describe the characteristics and potential clinical impact of intraoperative ultrasound imaging (IOUS) during CHI surgery. Methods This was a prospective, observational study undertaken at an expert centre over a 2-year interval. IOUS was performed blinded to preoperative diagnostic test results (genetics and 18F-DOPA PET–CT), followed by unblinding and continued IOUS during pancreatic resection. Characteristics and clinical impact were assessed using predefined criteria. Results Eighteen consecutive, surgically treated patients with CHI, with a median age of 5.5 months, were included (focal 12, diffuse 3, atypical 3). Focal lesions presented as predominantly hypoechoic, oval lesions with demarcated or blurred margins. Patients with diffuse and atypical disease had varying echogenicity featuring stranding and non-shadowing hyperechoic foci in three of six, whereas these characteristics were absent from those with focal lesions. The blinded IOUS-based subclassification was correct in 17 of 18 patients; one diffuse lesion was misclassified as focal. IOUS had an impact on the surgical approach in most patients with focal lesions (9 of 12), and in those with diffuse (2 of 3) and atypical (2 of 3) disease when the resection site was close to the bile or pancreatic duct. Conclusion Uniform IOUS characteristics made all focal lesions identifiable. IOUS had a clinical impact in 13 of 18 patients by being a useful real-time supplementary modality in terms of localizing focal lesions, reducing the need for frozen sections, and preserving healthy tissue and delicate structures., Intraoperative decision-making in surgical treatment of congenital hyperinsulinism is challenging. At our institution we use intraoperative ultrasound to comply with these challenges. This study presents prospective and blinded data on intraoperative ultrasound characteristics and its impact on the surgical approach.

International audience; PURPOSE:XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown.METHODS:We performed exome and/or Sanger sequencing in 145 individuals with 46,XY DSD of unknown etiology including gonadal dysgenesis and TRS.RESULTS:Thirteen children carried heterozygous missense pathogenic variants involving the RNA helicase DHX37, which is essential for ribosome biogenesis. Enrichment of rare/novel DHX37 missense variants in 46,XY DSD is highly significant compared with controls (P value = 5.8 × 10-10). Five variants are de novo (P value = 1.5 × 10-5). Twelve variants are clustered in two highly conserved functional domains and were specifically associated with gonadal dysgenesis and TRS. Consistent with a role in early testis development, DHX37 is expressed specifically in somatic cells of the developing human and mouse testis.CONCLUSION:DHX37 pathogenic variants are a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and TRS, showing that these conditions are part of a clinical spectrum. This raises the possibility that some forms of DSD may be a ribosomopathy.

Objective We aimed to investigate the prevalence of Turner syndrome (TS) in the Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. Methods A retrospective analysis was made in 538 TS girls aged 0.11-18.2 years within the time period of 2005-2015 with detailed examination of 150 patients. Results The prevalence of TS in Ukraine is 77.5 in 100.000 live female births. The average age at diagnosis is 9.33±4.93 years. The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%). The most frequently encountered findings were growth delay (98.8%), shortening of the 4th and 5th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular (19.6%) and urinary systems (13.8%) and pathology related to vision (20.1%) and hearing (22.0%). Conclusion In the Ukrainian population, the highest proportion of patients with TS had a karyotype 45,X. TS was accompanied by a lower frequency of malformations of internal organs compared to other countries.

Purpose: Focal congenital hyperinsulinism (CHI) is curable by surgery, which is why identification of the focal lesion is crucial. We aimed to determine the use of 18F–fluoro-dihydroxyphenylalanine (18F-DOPA) PET/CT vs. 68Ga-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic-acid-1-Nal3-octreotide (68Ga-DOTANOC) PET/CT as diagnostic tools in focal CHI. Methods: PET/CT scans of children with CHI admitted to Odense University Hospital between August 2005 and June 2016 were retrospectively evaluated visually and by their maximal standardized uptake values (SUVmax) by two independent examiners, blinded for clinical, surgical and pathological data. Pancreatic histology was used as the gold standard. For patients without surgery, the genetic profile served as the gold standard. Results: Fifty-five CHI patients were examined by PET/CT (18F-DOPA n = 53, 68Ga-DOTANOC n = 18). Surgery was performed in 34 patients, no surgery in 21 patients. Fifty-one patients had a classifiable outcome, either by histology (n = 33, 22 focal lesions, 11 non-focal) or by genetics (n = 18, all non-focal). The predictive performance of 18F-DOPA PET/CT to identify focal CHI was identical by visual- and cut-off-based evaluation: sensitivity (95% CI) of 1 (0.85–1); specificity of 0.96 (0.82–0.99). The optimal 18F-DOPA PET SUVmax ratio cut-off was 1.44 and the optimal 68Ga-DOTANOC PET SUVmax cut-off was 6.77 g/ml. The area under the receiver operating curve was 0.98 (0.93–1) for 18F-DOPA PET vs. 0.71 (0.43–0.95) for 68Ga-DOTANOC PET (p < 0.03). In patients subjected to surgery, localization of the focal lesion was correct in 91%, and 100%, by 18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT, respectively. Conclusion: 18F-DOPA PET/CT was excellent in predicting focal CHI and superior compared to 68Ga-DOTANOC PET/CT. Further use of 68GA-DOTANOC PET/CT in predicting focal CHI is discouraged.

BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high risk of neurological impairment; however, sparsely studied in larger patient series. We assessed the neurodevelopmental outcome in children with CHI at follow-up in a mixed international cohort.METHODS: In two hyperinsulinism expert centers, 75 CHI patients were included (Russian, n = 33, referred non-Scandinavian, treated in Denmark n = 27, Scandinavian, n = 15). Hospital files were reviewed. At follow-up, neurodevelopmental impairment and neurodevelopmental, cognitive and motor function scores were assessed.RESULTS: Median (range) age at follow-up was 3.7 years (3.3 months-18.2 years). Neurodevelopmental impairment was seen in 35 (47%). Impairment was associated with abnormal brain magnetic resonance imaging (MRI); odds ratio (OR) (95% CI) 15.0 (3.0-74.3), p = 0.001; lowest recorded blood glucose ≤1 mmol/L; OR 3.8 (1.3-11.3), p = 0.015, being non-Scandinavian patient, OR 3.8 (1.2-11.9), p = 0.023; and treatment delay from first symptom to expert center >5 days; OR 4.0 (1.0-16.6), trend p = 0.05. In multivariate analysis (n = 31) for early predictors with exclusion of brain MRI, treatment delay from first symptom to expert center >5 days conferred a significantly increased risk of neurodevelopment impairment, adjusted OR (aOR) 15.6 (1.6-146.7), p = 0.016, while lowest blood glucose ≤1 mmol/L had a trend toward increased risk, aOR 3.5 (1.1-14.3), p = 0.058. No associations for early vs. late disease onset, KATP-channel mutations, disease severity, focal vs. diffuse disease, or age at follow-up were seen in uni- or multivariate analysis.CONCLUSION: Not only very low blood glucose, but also insufficient treatment as expressed by delay until expert center hospitalization, increased the risk of neurodevelopmental impairment. This novel finding calls for improvements in spread of knowledge about CHI among health-care personnel and rapid contact with an expert CHI center on suspicion of CHI.

BACKGROUND Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members. METHODS Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing. RESULTS A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%). HNF1A and HNF4A MODY were the most common subtypes, accounting for 9/15 of MODY cases. Eight patients with HNF1A or HNF4A MODY and inadequate glycemic control were successfully transferred to sulfonylureas. Median HbA1c decreased from 67 mmol/mol (range 58-69) to 47 mmol/mol (range 43-50) (8.3% [7.5-8.5] to 6.4% [6.1-6.7]) 3 months after transfer (p=0.006). CONCLUSIONS Genetic testing identified pathogenic HNF1A and HNF4A variants as the most common cause of MODY in Ukraine. Transfer to sulfonylureas substantially improved the glycemic control of these patients.