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 <18 years of age) followed between 1987–2018 at Hospital de Pediatría Garrahan, Buenos Aires, Argentina. 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<0.05). Serum dehydroepiandrosterone sulfate (DHEAS) levels were significantly higher in stage IV than in stage I (p=0.03). Total adrenalectomy was performed in 26 patients. Eight patients (stage III-IV) received adjuvant chemotherapy. Five-year overall and disease-free survival were 100% for ST I-II, and 51% (95% CI 21–82) and 33% (95% CI 1.2–65) for ST III-IV, respectively (p=0.002). No statistical difference was found when comparing 2-year parameters with and without adjuvant chemotherapy. 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 development of chromosomal, gonadal, or anatomical sex is atypical. Objective: The aim of this study is to report the histological characteristics and immunoexpression patterns in gonadal parenchyma from patients with 46,XX testicular and ovotesticular DSD, with 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 H and E-stained sections and immunohistochemical analysis. Histopathological criteria from the last WHO classification of urogenital tumours 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). 15 patients were classified as ovotesticular and only one 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 pre-invasive and invasive malignancies in this cohort (5 patients had undifferentiated gonadal tissue, 5 gonadoblastoma, and 1 patient dysgerminoma). Conclusion: 46,XX disorders of gonadal development are historically considered at 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 need further research.
<b><i>Background:</i></b> 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 (<i>AMH</i>) and AMH receptor type 2 (<i>AMHR2</i>) genes lead to PMDS type 1 and 2, respectively. <b><i>Aim:</i></b> 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. <b><i>Results:</i></b> 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 <i>AMH</i> 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. <b><i>Conclusion:</i></b> 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.
Presentación de casos clínicos RESUMENLa hipokalemia aguda es una causa poco frecuente de debilidad muscular. La parálisis periódica tirotóxica es una complicación infrecuente de la tirotoxicosis, en sus diferentes etiologías, en la cual se produce hipokalemia por un flujo masivo de potasio al compartimiento intracelular, que provoca parálisis muscular, que afecta, principalmente, la musculatura proximal de los miembros inferiores. Es importante reconocer esta entidad para instaurar un tratamiento adecuado que incluya el rápido suplemento de potasio y el uso de beta-bloqueantes no selectivos. El tratamiento del hipertiroidismo subyacente y el retorno al estado eutiroideo es imprescindible para la resolución de los episodios de parálisis periódica tirotóxica. Aquí se presenta a un paciente de 13 años de edad con síndrome de Down que consultó por debilidad muscular de los miembros inferiores y trastorno de la marcha, asociada a hipokalemia aguda, en el que se realizó el diagnóstico de hipertiroidismo por enfermedad de Graves. Palabras clave: parálisis periódicas familiares, hipertiroidismo, metimazol, hipokalemia, síndrome de Down. ABSTRACTAcute 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.
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