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Background: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes lead to PMDS type 1 and 2, respectively. Aim: The aims of the study were to report the clinical, hormonal, and genetic findings in a patient with PMDS and discuss surgical strategies to achieve successful orchidopexy. Results: A 4-year-old boy was evaluated after the incidental finding of müllerian derivates during laparoscopy for nonpalpable gonads. Karyotype was 46,XY and laboratory tests revealed normal serum gonadotropin and androgen levels but undetectable serum AMH levels. PMDS was suspected. Molecular analysis revealed a novel variant c.902_929del in exon 5 and a previously reported mutation (c.367C>T) in exon 1 of the AMH gene. Successful orchidopexy was performed in two sequential surgeries in which the müllerian duct structure was preserved and divided to protect the vascular supply to the gonads. Histological evaluation of the testicular biopsy showed mild signs of dysgenesis. Doppler ultrasound showed blood flow in both testes positioned in the scrotum 1.5 years after surgery. Conclusion: PMDS is a rare entity that requires a high index of suspicion (from surgeons) when evaluating a patient with bilateral cryptorchidism. Surgical treatment is challenging and long-term follow-up is essential. Histological evaluation of the testis deserves further investigation.

Pediatric adrenocortical tumors are rare and heterogeneous endocrine malignancies. Objectives To report clinical, biochemical, and histological features, staging, and therapeutic interventions in a cohort of 28 patients treated at a single tertiary center. Methods A retrospective review of medical records of children with PACT (diagnosed before Results Mean age at diagnosis was 4.6 years (range, 0.3–17.3 years) and median follow-up was 4.17 years (range, 0–12 years). Female to male ratio was 2.5:1. Signs and symptoms that prompted medical intervention were hormonal overproduction (57%), abdominal complaints (36%), and hypertensive encephalopathy (7%). In patients with clinically virilizing tumors (n=16) mean height standard deviation score (SDS) and bone age advance were significantly higher while body mass index (BMI) SDS was significantly lower than in those with clinical Cushing’s (n=10) (p Conclusions Height SDS and BMI SDS seem to mirror hormonal secretion in pediatric adrenocortical tumors. Higher DHEAS levels were found in patients with more advanced disease. Further large-scale studies are needed to validate a possible role for DHEAS as a biochemical marker of tumor stage and to draw robust conclusions on the use of adjuvant chemotherapy.

Background Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies. Design Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma. Results Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16–16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma). Conclusion 46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.

Collaborative clinical trials have enlarged the knowledge base about pediatric tumors; however, this is not the case for rare tumors (RT).To describe the prevalence, clinical characteristics, and course of RT in pediatric patients diagnosed at Hospital Garrahan.Descriptive, retrospective study of patients aged 0-18 years diagnosed with a RT and admitted between January 2007 and December 2017.Out of 1657 patients diagnosed with solid tumors, 164 (9.9 %) were RT; 71.95 % (118) of patients were younger than 14 years and 81.7 % (130) were males. In order of frequency, RT were thyroid carcinoma (60), adrenal carcinoma (14), lung tumors (14), melanoma (13), salivary gland cancer (11), gastrointestinal tumors (8), non-germ cell gonadal tumors (7), pancreatic tumors (7), renal carcinomas (6), nasopharyngeal carcinomas (5), pheochromocytoma and paraganglioma (5), and thymic carcinoma in 1 patient. Treatment depended on tumor type and stage. The median follow-up was 34.9 months (range: 1-128.5 months); 133 patients (78.7 %) are alive and only 10 patients (6 %) were lost-to-follow-up.The prevalence of RT was 9.9 %. Twenty-seven percent occurred in adolescents. The most frequent tumors included thyroid carcinoma, adrenal carcinoma, and melanoma. Treatment and course varied based on tumor histology. Predisposing molecular alterations were found in 5.3 % of patients; 3.5 % had a history of cancer.Introducción. Los ensayos clínicos cooperativos han aumentado el conocimiento sobre los tumores pediátricos; sin embargo, no es el caso de los tumores raros (TR). Objetivo. Describir prevalencia, características clínicas y evolución de los TR en la edad pediátrica diagnosticados en el Hospital Garrahan. Material y métodos. Estudio descriptivo retrospectivo de pacientes entre 0 y 18 años con diagnóstico de TR ingresados entre enero de 2007 y diciembre de 2017. Resultados. De 1 657 pacientes con diagnóstico de tumores sólidos, 164 (9,9 %) correspondieron a TR, 71,95 % (118) eran menores de 14 años y 81,7 % (130) eran varones. En orden de frecuencia, los TR fueron: carcinoma de tiroides (60), carcinoma suprarrenal (14), tumores pulmonares (14), melanoma (13), carcinoma de glándulas salivales (11), tumores gastrointestinales (8), tumores gonadales no germinales (7), tumores pancreáticos (7), carcinomas renales (6), carcinomas nasofaríngeos (5), feocromocitoma y paraganglioma (5) y carcinoma de timo en 1 paciente. El tratamiento recibido dependió del tipo de tumor y del estadio. Con una mediana de seguimiento de 34,9 meses (rango: 1-128,5 meses), 133 pacientes (78,7 %) están vivos y solo 10 pacientes (6 %) se perdieron durante el seguimiento. Conclusión. La prevalencia de TR fue del 9,9 %. El 27 % se presentaron en adolescentes. Los tumores más frecuentemente diagnosticados fueron carcinoma de tiroides, carcinoma suprarrenal y melanoma. El tratamiento y la evolución varió según el tipo histológico. Se hallaron alteraciones moleculares predisponentes en el 5,3 % de los pacientes, el 3,5 % tenían antecedente de patología oncológica.

Background Cooperative clinical trials has increased the knowledge on pediatric tumors, however, this is not the case for rare tumors (RT). Objective To describe the incidence, clinical characteristics and outcome of RT in the pediatric age diagnosed at Garrahan Hospital. Material and methods Retrospective descriptive study of patients (pts) between 0 and 18 years admitted between January 2 007 and December 2 017, with diagnosis of RT. Results Of 1 657 pts with diagnosis of solid tumors, 164pts (9.9%) corresponded to RT, 71.95% (118pts) were under 14 years old and 81.7% (130pts) were male. In order offrequency RT were: thyroid carcinoma (ca) 60pts, adrenal ca 14pts, lung tumors 14pts, melanoma 13pts, salivary glands ca 11pts, gastrointestinal tumors 8pts, non-gonadal germinal tumors 7pts, pancreatic tumors 7pts, renal ca 6pts, nasopharyngeal ca 5pts, pheochromocytoma/paraganglioma 5pts, timo 1pte. The treatment received depended on the type of tumor and stage. With a median follow-up of 34.9 months (range: 1- 128.5 months), 133pts (78.7%) are alive and only 10pts (6%) were lost to follow-up. Conclusion Knowing these initial data will allow us to propose new registration strategies and to develop multidisciplinary proposals for diagnosis, treatment and follow-up.

Background: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce. Aim: To report the clinical phenotype and hormonal studies of an aromatase-deficient boy during the prepubertal and early pubertal period. Results: The patient was the older brother of a 46,XX girl with aromatase deficiency. Molecular analysis revealed a previously reported homozygous mutation (Arg192Cys) in the CYP19A1 gene. Pubertal onset was at 9.8 years. At 11.3 years of age, signs of rapidly progressive puberty were seen. Laboratory tests revealed normal pubertal basal and GnRH-stimulated gonadotropin levels, normal Sertoli cell markers, and increased testosterone. The prepubertal lumbar spine bone mineral density (BMD) was normal but pubertal bone mineral accrual was incomplete, leading to osteopenia. Conclusion: Estrogen restraint on gonadotropin secretion has been demonstrated in animal and human models. Interestingly, our patient presented with accelerated puberty and apparently normal pituitary gonadal function. These findings suggest that aromatase activity may be required to define pubertal progression in boys. Estrogen deficiency due to aromatase deficiency is responsible for insufficient bone mineral accrual during puberty.

La hipokalemia aguda es una causa poco frecuente de debilidadmuscular. La parálisis periódica tirotóxica es una complicacióninfrecuente de la tirotoxicosis, en sus diferentes etiologías,en la cual se produce hipokalemia por un flujo masivo depotasio al compartimiento intracelular, que provoca parálisismuscular, que afecta, principalmente, la musculatura proximalde los miembros inferiores. Es importante reconocer estaentidad para instaurar un tratamiento adecuado que incluyael rápido suplemento de potasio y el uso de beta-bloqueantesno selectivos. El tratamiento del hipertiroidismo subyacentey el retorno al estado eutiroideo es imprescindible para laresolución de los episodios de parálisis periódica tirotóxica.Aquí se presenta a un paciente de 13 años de edad con síndromede Down que consultó por debilidad muscular de los miembrosinferiores y trastorno de la marcha, asociada a hipokalemiaaguda, en el que se realizó el diagnóstico de hipertiroidismopor enfermedad de Graves.Palabras clave: parálisis periódicas familiares, hipertiroidismo,metimazol, hipokalemia, síndrome de Down. Acute hypokalemic paralysis is a rare cause of acute weakness. Thyrotoxic periodic paralysis (TPP) is an unusual complication of hyperthyroidism. It is characterized by sudden onset of hypokalemia condition resulting from a shift of potassium into cells and paralysis that primarily affects the lower extremities. Failure to recognize TPP may lead to improper management. Treatment of TPP includes replacing potassium rapidly, using nonselective beta-blockers and correcting the underlying hyperthyroidism as soon as possible. TPP is curable once euthyroid state is achieved. We describe a 13-year-old male with Down syndrome who presented with acute onset of lower extremity weakness secondary to acute hypokalemia and was found to have new onset Graves’ disease. Fil: Florio, Selene. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Mattone, María Celeste. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Gazek, Natalia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Herzovich, Viviana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Dujovne, Noelia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina