ABSTRACT
A 5 year-old girl presented with typical features of isosexual precocity with breast and pubic hair development (Tanner stage 3) and menarche, following a few months history of hirsutism of the back and thighs. Stimulation testing revealed GnRH-independent precocious puberty, tertiary hypothyroidism, hyperprolactinemia and mild testosteronemia. The ovaries in ultrasound examination were prepubertal. Tumor markers beta-hCG and AFP were markedly elevated and a 2.5 x 1.5 cm suprasellar germ cell tumor (GCT) was visualized by MRI. Combined chemotherapy followed by radiotherapy resulted in normalization of pubertal features along with estrogen and marker levels. Our observations support the possibility of hCG-dependent precocious puberty (PP) in girls caused by suprasellar hCG-secreting tumor. We emphasize the need of diagnostic management of hCG-dependent PP not only in boys, but also in girls, especially when they present even slight features of androgenization. We hypothesize that the rarity of isosexual PP in girls with hCG-secreting suprasellar GCT results not only from the lower occurrence of these tumors in girls than in boys, but above all from a rare simultaneous concomitant incidence of both high tumor aromatase activity and hCG secreting potency.
Subject(s)
Brain Neoplasms/complications , Brain Neoplasms/metabolism , Chorionic Gonadotropin, beta Subunit, Human/metabolism , Germinoma/complications , Germinoma/metabolism , Gonadotropin-Releasing Hormone/physiology , Puberty, Precocious/etiology , alpha-Fetoproteins/metabolism , Brain Neoplasms/diagnosis , Brain Neoplasms/therapy , Child, Preschool , Combined Modality Therapy , Female , Germinoma/diagnosis , Germinoma/therapy , Humans , Magnetic Resonance Imaging , Sella TurcicaABSTRACT
Only a few reports on patients with hypo/ asplenism associated with APECED have been published, yet hyposplenism has been found in approximately half of the studied patients. The 7-year follow-up in our only patient with APECED revealed a decrease of spleen size from normal to half-size by ultrasound and CT examinations. Scintigraphy of the liver and spleen demonstrated a progressively diminishing splenic uptake of the tracer from low to complete absence. Peripheral blood smears revealed permanent thrombocytosis with the presence of Howell-Jolly bodies when functional asplenism was reached. The cause of autoimmunization and hyposplenism in APECED is unknown. We hypothesize that hyposplenism depends primarily on local AIRE gene dysfunction in the spleen, and secondarily on an AIRE gene-mediated autoagressive process. In our opinion, hypo/asplenism in APECED disease might not be noticed in patients with APECED if not directly examined. Thus we emphasize the necessity of searching for hyposplenism in all patients with APECED, and recommend scintigraphy.
Subject(s)
Polyendocrinopathies, Autoimmune/immunology , Splenic Diseases/immunology , Autoantibodies/blood , Child , Erythrocytes/pathology , Female , Flow Cytometry , Fluorescent Antibody Technique, Indirect , Humans , Immunoglobulins/blood , Liver/diagnostic imaging , Lymphocyte Subsets , Polyendocrinopathies, Autoimmune/diagnosis , Polyendocrinopathies, Autoimmune/genetics , Radionuclide Imaging , Spleen/diagnostic imaging , Spleen/immunology , Spleen/physiopathology , Splenic Diseases/diagnosis , Splenic Diseases/physiopathology , Thrombocytosis/etiology , Tomography, X-Ray Computed , UltrasonographyABSTRACT
The paper presents the clinical picture, diagnostic and therapeutic management of suprasellar arachnoid cysts that result in isosexual precocious puberty in children. The authors stress the importance of physical examinations involving routine assessment of growth and sexual development as well as neurological evaluation in early diagnosis of suprasellar arachnoid cysts and other central causes of precocious puberty. The role of early diagnosis in preventing irreversible somatic and mental changes is emphasized.
ABSTRACT
A 5-year-old girl presented typical features of isosexual precocity with breast and pubic hair development (Tanner stage 3) and menarche, following a few months history of hirsutism of the back and thighs. Stimulation testing revealed GnRH-independent precocious puberty, secondary hypothyroidism, hyperprolactinemia and mild testosteronemia. The ovaries in ultrasound examination were prepubertal. Tumor markers beta-HCG and AFP were markedly elevated and a suprasellar germ cell tumor 25x15 mm in size was visualized by MRI. Combined chemotherapy followed by radiotherapy resulted in normalization of pubertal features along with estrogen and marker levels. These data indicate a possible development of precocious puberty in girls induced by choriogonadotropin (hCG) released by a supracellar germ cell tumor. Based on our observations and the literature on the subject the authors believe that the autonomous presence of aromatase inside the tumor may be responsible for precocious puberty in girls with hCG-releasing germ cell tumors, regardless of their location. In such cases the rare character of isosexual precocious puberty in girls may result from a unique combination of high hCG-releasing activity and high aromatase activity. In girls with precocious puberty, when discrete androgenization signs develop, the authors postulate to extend the diagnostic management so that hCG-dependent precocious puberty could be ruled out.
