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Nicolas Forero-Castro Maternal and Child Unit of the Tolima Province, Colombia
Hospital Militar Central, Bogotá, Colombia

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Luis Carlos Ramirez Maternal and Child Unit of the Tolima Province, Colombia

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Juan Carlos Celis Maternal and Child Unit of the Tolima Province, Colombia

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Fernando Arturo Silva Henao Maternal and Child Unit of the Tolima Province, Colombia

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Fernando Leal Valencia Maternal and Child Unit of the Tolima Province, Colombia

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Summary

Pancreatic dysgenesis (PD) is a rare congenital disease, with less than 100 cases reported in the literature. In most cases, patients are asymptomatic and the diagnosis is made incidentally. In this report, we present the case of two brothers with a history of intrauterine growth retardation, low birth weight, hyperglycemia, and poor weight gain. The diagnosis of PD and neonatal diabetes mellitus was made by an interdisciplinary team composed of an endocrinologist, a gastroenterologist, and a geneticist. Once the diagnosis was made, treatment with an insulin pump, pancreatic enzyme replacement therapy, and supplementation with fat-soluble vitamins was decided. The use of the insulin infusion pump facilitated the outpatient treatment of both patients.

Learning points

  • Pancreatic dysgenesis is a relatively rare congenital anomaly; most of the time, patients are asymptomatic and are diagnosed incidentally.

  • The diagnosis of pancreatic dysgenesis and neonatal diabetes mellitus should be made with an interdisciplinary team.

  • Due to its flexibility, the use of an insulin infusion pump facilitated the management of these two patients.

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Joanna Chrzanowska Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Monika Seifert Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Barbara Salmonowicz Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Agnieszka Zubkiewicz-Kucharska Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Summary

The etiology of foot drop is diverse from various diseases to mechanic injuries and includes neuropathy of the peroneal nerve. Peroneal neuropathy might also be one of the forms of diabetic neuropathy, very rarely reported as the first sign of diabetes. We describe three cases of children with newly diagnosed type 1 diabetes (TID) who developed unilateral peroneal nerve palsies and tibial nerve palsies, presenting clinically as a foot drop. In two of our cases, the symptoms of foot drop occurred shortly after starting treatment for severe diabetes ketoacidosis. In the third patient, food drop was a reason for the initial medical consultation, but eventually, TID was diagnosed. The presented cases highlight that neuropathy can be observed not only as a chronic complication of T1D, but it can also appear at the time of disease manifestation. The incorrect position of the lower limb during a keto coma may contribute to the development of neuropathy.

Learning points

  • Neuropathy can be observed not only as a chronic complication of type 1 diabetes (T1D), but it can also appear at the time of disease manifestation.

  • The incorrect position of the lower limb causing external pressure during a keto coma may contribute to the development of neuropathy.

  • It is important to examine the glycemia in patients with acute peroneal neuropathy, as this kind of peripheral neuropathy can be associated with newly diagnosed T1D. Normalization of glycemia might lead to rapid neuronal recovery.

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Katriona Fox Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Aisling Fitzsimons Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Farhana Sharif Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
Department of Paediatrics, Royal College of Surgeons in Ireland, Dublin, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Graham Robert Lee School of Medicine, University College Dublin, Dublin, Ireland
Department of Clinical Biochemistry and Diagnostic Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Michael Joseph O’Grady Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Summary

Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop ‘pendulum swinging’ thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves’ disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued. Low-dose L-thyroxine was commenced. This was subsequently also discontinued as biochemical hyperthyroidism developed. TSH receptor antibody bioassay identified both TSH receptor-stimulating and -blocking antibodies. Mild hyperthyroidism persisted and while consultations regarding definitive treatment were ongoing, medication was not recommenced. Thyroid function normalised spontaneously and she has remained euthyroid for the past 3 years. Previous reports have advised definitive treatment; however, our patient developed spontaneous remission which has been prolonged and definitive therapies have been avoided. It is not yet known how commonly this particular phenomenon occurs.

Learning points

  • Rare patients who have both TSH receptor-stimulating and -blocking antibodies can switch between hyperthyroidism and hypothyroidism or vice versa during treatment with antithyroid drugs or thyroxine.

  • Metamorphic thyroid autoimmunity is more common in Down syndrome.

  • Switching between hyperthyroidism and hypothyroidism and back again is less commonly reported.

  • Definitive treatment such as radioactive iodine or thyroidectomy are usually recommended.

  • Prolonged remission was achieved off all medication, without recourse to definitive treatments.

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Erica A Steen University of California, San Diego, San Diego, California, USA

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Mary E Patterson University of California, San Diego, San Diego, California, USA
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Michelle Rivera-Vega Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Susan A Phillips University of California, San Diego, San Diego, California, USA
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Summary

An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips. Laboratory studies demonstrated low free thyroxine (T4) and normal thyroid-stimulating hormone (TSH). A referral to endocrinology was made where the patient was evaluated, and laboratory evaluation was repeated. The patient was asymptomatic and clinically euthyroid with a height consistent with her mid-parental height and was in mid- to late-puberty. The repeated laboratory evaluation demonstrated a pattern suggestive of primary hypothyroidism with low free T4 and an elevated TSH. However, the magnitude of elevation of TSH was less than expected, given the degree of lowering of free T4; therefore, central hypothyroidism was considered. Workup was initiated, and laboratory studies and MRI imaging confirmed an underlying diagnosis of panhypopituitarism in the setting of pituitary stalk interruption syndrome.

Learning points

  • Pituitary stalk interruption syndrome is a rare but important cause of panhypopituitarism.

  • Central hypothyroidism should be suspected in patients with low free thyroxine with an inappropriate degree of elevation of thyroid-stimulating hormone.

  • Workup of central hypothyroidism should include multi-pituitary hormone assessment, and, if evident, MRI imaging should be done.

  • Adrenal insufficiency should be suspected in a hypotensive, critically ill patient who is failing to improve on standard-of-care therapy.

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Foram Patel Department of Pediatrics, Southern Illinois University, Springfield, Illinois, USA

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Ginger Darling Department of Pediatrics, Division of Neonatology, Southern Illinois University, Springfield, Illinois, USA

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Ahmed Torky Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Southern Illinois University, Springfield, Illinois, USA

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Summary

Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism. The FOXA2 gene has been involved in the development of the pancreas as well as the pituitary gland. Six cases have been reported thus far with FOXA2 mutations presenting with variable degrees of hypopituitarism, and only two patients had permanent hyperinsulinism; other cases have been reported with microdeletions in 20p11, the location that encompasses FOXA2, and those patients presented with a wider phenotype. A full-term female infant presented with severe hypoglycemia. Critical sampling showed an insulin of 1 mIU/mL, suppressed beta-hydroxybutyric acids, and suppressed free fatty acids. Blood glucose responded to glucagon administration. Growth hormone (GH) stimulation test later showed undetectable GH in all samples, and cortisol failed to respond appropriately to stimulation. Gonadotropins were undetectable at 1 month of life, and MRI showed ectopic posterior pituitary, interrupted stalk, hypoplastic anterior pituitary, cavum septum pellucidum, and diminutive appearance of optic nerves. Whole-exome sequencing revealed a likely pathogenic de novo c.604 T>C, p.Tyr202His FOXA2 mutation. We expand the known phenotype on FOXA2 mutations and report a likely pathogenic, novel mutation associated with hyperinsulinism and panhypopituitarism.

Learning points

  • FOXA2 has been shown to play an important role in the neuroectodermal and endodermal development.

  • FOXA2 mutation may lead to the rare combination of hyperinsulinism and panhypopituitarism.

  • Patients reported so far all responded well to diazoxide. Dysmorphology may be subtle, and liver functions should be monitored.

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Rahim Karim Damji Department of Paediatrics, Regency Medical Centre, Dar es Salaam, Tanzania

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Mohamed Zahir Alimohamed Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania
Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Tanzania Human Genetics Organization, Dar es Salaam, Tanzania

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Hedi L Claahsen-van der Grinten Department of Paediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands

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Dineke Westra Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Ben Hamel Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Summary

Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene. A retrospective evaluation of the medical history, physical examination, limited endocrinological laboratory analysis and genetic analysis with DSD gene panel testing was performed. A 1.5-month-old individual was referred with ambiguous genitalia. The karyotype was 46,XY. The endocrinological analyses were within normal male reference including a normal response of cortisol within an adrenocorticotropic hormone test. A novel heterozygous missense variant c.206G>C p.(Arg69Pro) in the NR5A1 gene was detected. This variant was present in mosaic form (~20%) in his unaffected father. Because another missense variant at the same position and other missense variants involving the same highly conserved codon have been reported, we consider this NR5A1 variant in this 46,XY DSD patient as likely pathogenic in accordance with the ACMG/AMP 2015 guidelines causing ambiguous genitalia but no adrenal insufficiency. This variant was inherited from the apparently unaffected mosaic father, which might have implications for the recurrence risk in this family.

Learning points

  • The importance of performing trio (patient and parents) sequencing is crucial in pointing out the origin of inheritance.

  • In a 46,XY differences of sex development patient, a normal adrenal function does not rule out an NR5A1 mutation.

  • With the support of a dedicated overseas institute partnership, we could solve this complex clinical case by molecular diagnosis in a resource-limited setting.

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Maha Khalil Abass Pediatric Endocrinology Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

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Aisha Al Shamsi Clinical Genetics Department, Tawam Hospital, Al Ain, United Arab Emirates

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Iftikhar Jan Paediatric Surgery Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates
College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates

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Mohammed Suhail Yasin Masalawala Clinical Trial Unit, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

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Asma Deeb Pediatric Endocrinology Division, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates
College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates

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Summary

The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. Patients with these underlying genetic mutations can have severe diseases with a high morbidity rate and frequent hospitalization. We report an Arab girl who presented with acute pancreatitis at the age of 7 years progressing to recurrent chronic pancreatitis over a few years. She had severe obesity from the age of 4 years and developed type 2 diabetes at the age of 12. She had a normal biliary system anatomy. Genetic analysis showed that she had combined heterozygous mutations in the SPINK1 gene (SPINK1, c.101A>G p.(Asn34Ser) and SPINK1, c.56-37T>C). Her parents were first-degree cousins, but neither had obesity. Mother was detected to have the same mutations. She had type 2 diabetes but never presented with pancreatitis. This case is the first to be reported from the Arab region with these combined mutations leading to recurrent chronic pancreatitis. It illustrates the importance of diagnosing the underlying genetic mutation in the absence of other known causes of pancreatitis. Considering the absence of pancreatitis history in the mother who did not have obesity but harboured the same mutations, we point out that severe obesity might be a triggering factor of pancreatitis in the presence of the mutations in SPINK1 gene in this child. While this is not an assumption from a single patient, we show that not all carriers of this mutation develop the disease even within the same family. Triggering factors like severe obesity might have a role in developing the disease.

Learning points

  • Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed.

  • Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system.

  • Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors.

  • SPINK1 mutations can predispose to an early-onset severe recurrent pancreatitis and acute pancreatitis.

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Siham Hussein Subki Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Raghad Wadea Mohammed Hussain Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Abdulmoein Eid Al-Agha Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Summary

Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family’s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.

Learning points

  • Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates.

  • In such patients, pediatricians should not wait until the neonate develops an adrenal crisis.

  • A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.

Open access
Inês Henriques Vieira Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Nádia Mourinho Bala Department of Endocrinology, Diabetes and Metabolism, Hospital Beatriz Ângelo, Loures, Portugal

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Fabiana Ramos Department of Medical Genetics, Diabetes and Growth, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Isabel Dinis Department of Endocrinology, Diabetes and Growth, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Rita Cardoso Department of Endocrinology, Diabetes and Growth, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Joana Serra Caetano Department of Endocrinology, Diabetes and Growth, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Dírcea Rodrigues Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Isabel Paiva Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Alice Mirante Department of Endocrinology, Diabetes and Growth, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal

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Summary

Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge.

Learning points

  • Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice.

  • An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage.

  • In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded.

  • Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling.

Open access
Mami Kobayashi Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan
Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan

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Hideaki Yagasaki Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Kei Tamaru Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Yumiko Mitsui Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Takeshi Inukai Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

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Summary

Prader–Willi syndrome (PWS) is a genetic imprinting disorder that is characterized by obesity, short stature, and hypogonadism. Hypogonadism is characterized by normal luteinizing hormone (LH), high follicle-stimulating hormone (FSH), low testosterone, low inhibin B, and relatively low anti-Müllerian hormone (AMH). Only a few cases of central precocious puberty (CPP) have been reported in PWS, and follow-up for CPP with PWS is not established. Hence, we present a boy with PWS accompanied by CPP. Gonadotropin-releasing hormone analog (GnRHa) therapy was started at 7 years of age, CPP was adequately arrested, and GnRHa therapy was discontinued at 11.3 years of age. Growth hormone (GH) therapy was started at 12 years of age due to inadequate growth. He grew close to his final height, and his testes developed with normal LH, increased FSH, normal testosterone, and reduced AMH corresponding to puberty at 13.5 years of age. The features of 16 patients with PWS with CPP, including our patient, were summarized. Out of seven male patients, five were treated with GnRHa, as well as four out of nine female patients. Out of 16 patients, 6 were assessed with pubertal development over 13 years of age. Pubertal development was considered to be restored in four patients who had GnRHa therapy discontinuation. We should carefully follow-up on pubertal development in CPP. GnRHa therapy is useful for adequate puberty blockage, and pubertal development could be restored with GnRHa therapy discontinuation.

Learning points

  • Pubertal development in Prader–Willi syndrome (PWS) varies from hypogonadism to precocious puberty.

  • Pubertal development assessment based on clinical features and hormone levels is needed in central precocious puberty (CPP) treatment with PWS.

  • Gonadotropin-releasing hormone analog (GnRHa) therapy is useful for CPP with PWS, and pubertal development can be restored with GnRHa therapy discontinuation.

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