RESUMO
OBJECTIVES: Pituitary gigantism is a rare condition and it often has an identifiable genetic cause. In this article we report a case of a young girl with pituitary gigantism and two genetic changes. CASE PRESENTATION: A 15-year-old girl with primary amenorrhea was diagnosed with a growth hormone (GH) and prolactin (PRL)-producing tumor, needing surgery and medical treatment with octreotide in order to achieve disease control. The co-occurrence of an AIP mutation and a MEN1 variant of uncertain significance was demonstrated in this patient. The germline mutation involving AIP was inherited from her father who at the age of 55 was unaffected and the MEN1 variant was a de novo duplication of the region 11q13.1. The latter variant, not previously reported, is unlikely to be pathogenic. Nonetheless, screening for other components of multiple endocrine neoplasia type 1 (MEN1) was performed and proved negative. CONCLUSIONS: The rare co-occurrence of an AIP mutation and a MEN 1 variant of uncertain significance was demonstrated in this patient.
Assuntos
Gigantismo , Hormônio do Crescimento Humano , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Hipofisárias , Adolescente , Feminino , Humanos , Mutação em Linhagem Germinativa , Gigantismo/etiologia , Hormônio do Crescimento/genética , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento Humano/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/complicações , ProlactinaRESUMO
Introduction: Acromegaly and gigantism entail increased morbidity and mortality if left untreated, due to the systemic effects of chronic GH and IGF-1 excess. Guidelines for the diagnosis and treatment of patients with GH excess are well established; however, the presentation, clinical behavior and response to treatment greatly vary among patients. Numerous markers of disease behavior are routinely used in medical practice, but additional biomarkers have been recently identified as a result of basic and clinical research studies.Areas covered: This review focuses on genetic, molecular and genomic features of patients with GH excess that have recently been linked to disease progression and response to treatment. A PubMed search was conducted to identify markers of disease behavior in acromegaly and gigantism. Markers already considered as part of routine studies in clinical care guidelines were excluded. Literature search was expanded for each marker identified. Novel markers not included or only partially covered in previously published reviews on the subject were prioritized.Expert opinion: Recognizing the most relevant markers of disease behavior may help the medical team tailoring the strategies for approaching each case of acromegaly and gigantism. This customized plan should make the evaluation, treatment and follow up process more efficient, greatly improving the patients' outcomes.
Assuntos
Acromegalia/diagnóstico , Gigantismo/diagnóstico , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Hormônio do Crescimento Humano/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Acromegalia/etiologia , Biomarcadores , Gigantismo/etiologia , HumanosRESUMO
Gigantism (early-onset acromegaly) is a rare pediatric disorder caused by a growth hormone (GH)-secreting pituitary adenoma. Approximately 50% patients of gigantism have a germline mutation, most commonly an inactivating mutation in the aryl-hydrocarbon interacting receptor protein (AIP) gene on chromosome 11q13.2. We present an 11-year-old male patient with a GH-secreting pituitary macroadenoma who presented with excessive growth spurts, behavioral changes, and frontal headaches. He was successfully treated with an endoscopic endonasal gross total resection and subsequently demonstrated biochemical cure. Whole-exome sequencing showed a heterozygous germline mutation in the AIP gene suggesting pituitary adenoma predisposition. Analysis of the tumor tissue revealed a large-scale deletion on chromosome 11 overlapping with AIP leading to bi-allelic AIP loss. Coincident germline and somatic AIP mutations were likely causal in formation of a GH-secreting adenoma with an aggressive phenotype. This case exemplifies the need for early diagnosis and curative surgery in the management of AIP-mutated pituitary adenomas.
Assuntos
Mutação em Linhagem Germinativa , Gigantismo/etiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Peptídeos e Proteínas de Sinalização Intracelular/genética , Neoplasias Hipofisárias/patologia , Criança , Cromossomos Humanos Par 11/genética , Gigantismo/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Heterozigoto , Humanos , Masculino , Fenótipo , Neoplasias Hipofisárias/genética , Deleção de SequênciaRESUMO
INTRODUCTION: Pituitary gigantism is a rare but significant paediatric condition with complexities surrounding diagnosis and management. Transsphenoidal surgery (TSS) is the treatment of choice; however, medical treatment is often considered as adjuvant therapy. CASE: A 10½ -year-old boy presented with tall stature and a height velocity of 11 cm/year. His height was 178.7 cm (+5.8 SD above mean) and insulin-like growth factor-1 (IGF-1) was elevated. An oral glucose tolerance test demonstrated non-suppression of growth hormone (GH). Initial contrast MRI was inconclusive, but C-11 methionine functional positron emission tomography CT identified a 6 mm pituitary microadenoma. A multidisciplinary team clinic held with the family allowed discussion about medical and surgical treatment options. Due to a number of factors including the patient's young age, prepubertal status, a wish to allow him to settle into his new high school and his desire to reach a final height taller than his father's height, it was decided to try medical therapy first with a somatostatin analogue. Pubertal induction was also commenced and bilateral epiphysiodesis surgery performed. Initial response to octreotide was positive; however, 4 months into therapy his IGF-1 was climbing and a repeat GH profile was not fully suppressed. The patient therefore proceeded to have successful TSS excision of the adenoma. CONCLUSION: Rare cases such as this require sharing of knowledge and expertise, so the best possible care is offered. It is often necessary to work across sites and disciplines. Each case requires an individual approach tailored to the patient and their family.
Assuntos
Adenoma/complicações , Adenoma/diagnóstico , Gigantismo/diagnóstico , Gigantismo/etiologia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Adenoma/terapia , Criança , Gigantismo/terapia , Humanos , Masculino , Neoplasias Hipofisárias/terapiaRESUMO
CONTEXT: X-linked acrogigantism (X-LAG), a condition of infant-onset acrogigantism marked by elevated GH, IGF-1, and prolactin (PRL), is extremely rare. Thirty-three cases, including three kindreds, have been reported. These patients have pituitary adenomas that are thought to be mixed lactotrophs and somatotrophs. CASE DESCRIPTION: The patient's mother, diagnosed with acrogigantism at 21 months, underwent pituitary tumor excision at 24 months. For more than 30 years, stable PRL, GH, and IGF-1 concentrations and serial imaging studies indicated no tumor recurrence. During preconception planning, X-LAG was diagnosed: single-nucleotide polymorphism microarray showed chromosome Xq26.3 microduplication. After conception, single-nucleotide polymorphism microarray on a chorionic villus sample showed the same microduplication in the fetus, confirming familial X-LAG. The infant grew rapidly with rising PRL, GH, and IGF-1 concentrations and an enlarging suprasellar pituitary mass, despite treatment with bromocriptine. At 15 months, he underwent tumor resection. The pituitary adenoma resembled the mother's pituitary adenoma, with tumor cells arranged in trabeculae and glandular structures. In both cases, many tumor cells expressed PRL, GH, and pituitary-specific transcription factor-1. Furthermore, the tumor expressed other lineage-specific transcription factors, as well as SOX2 and octamer-binding transcription factor 4, demonstrating the multipotentiality of X-LAG tumors. Both showed an elevated Ki-67 proliferation index, 5.6% in the mother and 8.5% in the infant, the highest reported in X-LAG. CONCLUSIONS: This is a prenatally diagnosed case of X-LAG. Clinical follow-up and biochemical evaluation have provided insight into the natural history of this disease. Expression of stem cell markers and several cell lineage-specific transcription factors suggests that these tumors are multipotential.
Assuntos
Acromegalia/diagnóstico , Adenoma/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Gigantismo/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Diagnóstico Pré-Natal , Acromegalia/etiologia , Acromegalia/patologia , Adenoma/complicações , Adenoma/patologia , Adulto , Feminino , Gigantismo/etiologia , Gigantismo/patologia , Humanos , Lactente , Masculino , Relações Mãe-Filho , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/patologia , Gravidez , Resultado da GravidezRESUMO
In the general population, height is determined by a complex interplay between genetic and environmental factors. Pituitary gigantism is a rare but very important subgroup of patients with excessive height, as it has an identifiable and clinically treatable cause. The disease is caused by chronic growth hormone and insulin-like growth factor 1 secretion from a pituitary somatotrope adenoma that forms before the closure of the epiphyses. If not controlled effectively, this hormonal hypersecretion could lead to extremely elevated final adult height. The past 10 years have seen marked advances in the understanding of pituitary gigantism, including the identification of genetic causes in ~50% of cases, such as mutations in the AIP gene or chromosome Xq26.3 duplications in X-linked acrogigantism syndrome. Pituitary gigantism has a male preponderance, and patients usually have large pituitary adenomas. The large tumour size, together with the young age of patients and frequent resistance to medical therapy, makes the management of pituitary gigantism complex. Early diagnosis and rapid referral for effective therapy appear to improve outcomes in patients with pituitary gigantism; therefore, a high level of clinical suspicion and efficient use of diagnostic resources is key to controlling overgrowth and preventing patients from reaching very elevated final adult heights.
Assuntos
Adenoma/complicações , Predisposição Genética para Doença/epidemiologia , Gigantismo/etiologia , Fator de Crescimento Insulin-Like I/genética , Neoplasias Hipofisárias/complicações , Acromegalia/etiologia , Acromegalia/genética , Acromegalia/terapia , Adenoma/diagnóstico , Adenoma/genética , Diagnóstico Precoce , Gigantismo/genética , Gigantismo/terapia , Hormônio do Crescimento Humano/metabolismo , Humanos , Masculino , Mutação , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética , Prognóstico , Medição de Risco , Fatores SexuaisRESUMO
Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. An acute obstructive hydrocephalus due to a 39 × 35-mm cystic lesion in the third ventricle was discovered and operated, obtaining hydrocephalus resolution. Pathology described a colloid cyst material and a growth hormone-secreting pituitary adenoma. Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. Adequate hormonal control was achieved postoperatively. Our results suggest that long-term untreated growth hormone excess in patients with MAS-related craniofacial fibrous dysplasia might end compromising cerebrospinal fluid flow. A prompt diagnosis and coordinated multidisciplinary treatment may help to avoid long-term deleterious impact of hyperfunctioning endocrinopathies in these patients.
Assuntos
Diagnóstico Tardio , Ossos Faciais/patologia , Displasia Fibrosa Poliostótica/diagnóstico , Gigantismo/etiologia , Cefaleia/etiologia , Hidrocefalia/etiologia , Crânio/patologia , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/patologia , Humanos , Masculino , Adulto JovemRESUMO
Tall stature is statistically defined as a height standard deviation score (SDS) above 2 for a given age, sex and population group. The most common cause of tall stature is constitutional (often familial) tall stature. However, underlying endocrine or genetic disorders must be considered as some of them may require specific treatment or management. In constitutional tall stature, healthy children are referred to discuss treatment aiming at reducing adult height. The indications of treatment are rare and usually discussed in girls with extremely tall stature (height SDS>4, corresponding to 185cm in girls). The treatment options for tall children are limited and concerns have been raised about their long-term safety. Indeed, recent studies have suggested that high-dose estrogens in adolescent girls may be associated with an increased risk of infertility, as well as increased risk of cancer. Surgical epiphysiodesis has also been reported to reduce adult height but this invasive procedure in healthy children can be questionable and further data on its safety profile are required.
Assuntos
Estatura , Gigantismo/terapia , Adolescente , Idade de Início , Criança , Gigantismo/etiologia , Gigantismo/cirurgia , Transtornos do Crescimento , Humanos , Procedimentos OrtopédicosRESUMO
Introduction: Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report: We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion: Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.
Assuntos
Adenoma/complicações , Desenvolvimento do Adolescente , Estatura , Gigantismo/etiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Síndrome de Turner/complicações , Adenoma/sangue , Adenoma/fisiopatologia , Adenoma/cirurgia , Adolescente , Amenorreia/etiologia , Amenorreia/fisiopatologia , Biomarcadores/sangue , Feminino , Gigantismo/sangue , Gigantismo/fisiopatologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/sangue , Adenoma Hipofisário Secretor de Hormônio do Crescimento/fisiopatologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/sangue , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Imageamento por Ressonância Magnética , Mosaicismo , Puberdade Tardia/etiologia , Puberdade Tardia/fisiopatologia , Resultado do Tratamento , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologiaRESUMO
Thyrotropin (TSH)-secreting pituitary adenomas are exceedingly rare at the pediatric age and no cases of co-secretion with other pituitary hormones in these tumors have been described in this age range. We present a case of a monomorphous plurihormonal pituitary adenoma that co-secreted TSH and GH in a pediatric patient. A 13-year-old male presented with increasing height velocity (17.75 cm/year, 9.55SD), weight loss, and visual impairment. Initial biochemical evaluations revealed secondary hyperthyroidism. A giant pituitary tumor compressing the surrounding structures was detected by magnetic resonance, and a transsphenoidal surgery was initially performed. Pathological examinations revealed an atypical, monomorphous plurihormonal Pit-1 lineage tumor with mixed features of silent subtype 3 adenoma and acidophil stem cell adenoma. In the postoperative period, secondary hyperthyroidism recurred with high levels of both GH and IGF1. In addition, due to tumor re-growth, a multimodality treatment plan was undertaken including surgery, somatostatin analogs, and radiotherapy. We report the first pediatric case of a plurihormonal TSH- and GH-secreting pituitary adenoma, further expanding the clinical manifestations of pediatric pituitary tumors. Comprehensive pathological evaluation and close follow-up surveillance are crucial to the prompt delivery of the best therapeutic options in the context of this particularly aggressive pituitary tumor.
Assuntos
Adenoma/patologia , Gigantismo/etiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Tireotropina/metabolismo , Adenoma/complicações , Adenoma/metabolismo , Adolescente , Biomarcadores Tumorais/análise , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Adenoma Hipofisário Secretor de Hormônio do Crescimento/metabolismo , Humanos , Hipertireoidismo/etiologia , Imuno-Histoquímica , Masculino , Microscopia Eletrônica de Transmissão , Recidiva Local de Neoplasia/patologia , Fator de Transcrição Pit-1/metabolismoRESUMO
Acromegaly and pituitary gigantism are very rare conditions resulting from excessive secretion of growth hormone (GH), usually by a pituitary adenoma. Pituitary gigantism occurs when GH excess overlaps with the period of rapid linear growth during childhood and adolescence. Until recently, its etiology and clinical characteristics have been poorly understood. Genetic and genomic causes have been identified in recent years that explain about half of cases of pituitary gigantism. We describe these recent discoveries and focus on some important settings in which gigantism can occur, including familial isolated pituitary adenomas (FIPA) and the newly described X-linked acrogigantism (X-LAG) syndrome.
Assuntos
Gigantismo/diagnóstico , Gigantismo/etiologia , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos X , Feminino , Displasia Fibrosa Poliostótica , Predisposição Genética para Doença , Gigantismo/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Hormônio do Crescimento Humano/metabolismo , Humanos , Imageamento por Ressonância Magnética , Neoplasia Endócrina Múltipla Tipo 1 , Mutação , Neoplasias Hipofisárias/metabolismo , SíndromeRESUMO
PURPOSE: Acromegaly usually occurs as a sporadic disease, but it may be a part of familial pituitary tumor syndromes in rare cases. Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene have been associated with a predisposition to familial isolated pituitary adenoma. The aim of the present study was to evaluate the AIP gene in a patient with gigantism and in her relatives. METHODS: Direct sequencing of AIP gene was performed in fourteen members of the family, spanning among three generations. RESULTS: The index case was an 18-year-old woman with gigantism due to an invasive GH-secreting pituitary adenoma and a concomitant tall-cell variant of papillary thyroid carcinoma. A novel germline mutation in the AIP gene (c.685C>T, p.Q229X) was identified in the proband and in two members of her family, who did not present clinical features of acromegaly or other pituitary disorders. Eleven subjects had no mutation in the AIP gene. Two members of the family with clinical features of acromegaly refused either the genetic or the biochemical evaluation. The Q229X mutation was predicted to generate a truncated AIP protein, lacking the last two tetratricopeptide repeat domains and the final C-terminal α-7 helix. CONCLUSIONS: We identified a new AIP germline mutation predicted to produce a truncated AIP protein, lacking its biological properties due to the disruption of the C-terminus binding sites for both the chaperones and the client proteins of AIP.
Assuntos
Carcinoma/genética , Mutação em Linhagem Germinativa/genética , Gigantismo/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Carcinoma/complicações , Carcinoma Papilar , Feminino , Gigantismo/etiologia , Humanos , Itália , Linhagem , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/complicaçõesRESUMO
Prosthetic arteriovenous grafts (AVGs) are associated with greater morbidity than autogenous arteriovenous fistulas (AVFs), but their use is indicated when AVF formation is not possible. This report adds to the literature a case of lower limb gigantism, painful varicosities, and lymphedema following long-term use of AVG in the upper thigh. The patient's past medical history included renal transplantation on the same side well before the AVG was inserted and right leg deep vein thrombosis. Suspicion of AVG thrombosis was excluded by Doppler ultrasound, which demonstrated an access flow of 1700 mL/min. A computed tomography (CT) scan of the abdomen and pelvis did not identify the cause of her symptoms. Whereas functional incompetence of the iliac vein valve might be responsible for the varicosities, the extent of hypertrophy in this case raises the suspicion of lymphatic blockage possibly secondary to groin dissection undertaken at the time of graft insertion, in addition to the previous dissection at the time of transplantation. This case highlights the need for minimal groin dissection during AVG insertion, particularly in patients with a history of previous abdominopelvic surgery.
Assuntos
Derivação Arteriovenosa Cirúrgica/efeitos adversos , Gigantismo/etiologia , Perna (Membro)/irrigação sanguínea , Linfedema/etiologia , Varizes/etiologia , Derivação Arteriovenosa Cirúrgica/métodos , Feminino , Humanos , Linfedema/sangue , Linfedema/patologia , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
McCune-Albright syndrome (MAS) is an uncommon polyostotic manifestation of fibrous dysplasia in association with at least one endocrinopathy that is mostly associated with precocious puberty and hyperpigmented skin macules named café-au-lait spots. We present an atypical manifestation of McCune-Albright syndrome in a 19-year-old man with the uncommon association of polyostotic fibrous dysplasia and gigantism in the absence of café-au-lait spots and precocious puberty. He presented with a height increase to 202 cm in the previous 3 years, which had become more progressive in the few months prior. Physical examination revealed only a mild facial asymmetry; however, a computed tomography (CT) scan discovered vast areas of voluminous bones with ground-glass density and thickening involving the craniofacial bones and skull base. Magnetic resonance imaging (MRI) found a right stalk shift of the pituitary with a 20 mm pituitary adenoma. We describe the diagnostic and endoscopic endonasal transsphenoidal approach for excision of the tumor.
Assuntos
Endoscopia , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Poliostótica/complicações , Gigantismo/etiologia , Gigantismo/cirurgia , Cavidade Nasal/cirurgia , Osso Esfenoide/patologia , Adenoma/cirurgia , Conservadores da Densidade Óssea/uso terapêutico , Displasia Fibrosa Óssea/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Octreotida/uso terapêutico , Osteoporose/tratamento farmacológico , Cirurgia Assistida por Computador , Adulto JovemAssuntos
Osso e Ossos/patologia , Gigantismo/história , Doenças da Hipófise/diagnóstico , Doenças da Hipófise/história , Mundo Romano , Adolescente , Fósseis , Gigantismo/etiologia , Gigantismo/patologia , História Antiga , Humanos , Masculino , Doenças Raras/diagnóstico , Doenças Raras/história , Adulto JovemAssuntos
Acromegalia/história , Arte/história , Endocrinologia/história , Gigantismo/história , Hemianopsia/história , Medicina nas Artes , Pinturas , Acromegalia/complicações , Acromegalia/etiologia , Gigantismo/complicações , Gigantismo/etiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/fisiopatologia , Hemianopsia/complicações , Hemianopsia/etiologia , História do Século XVI , História do Século XVII , História Antiga , Holoprosencefalia/complicações , Humanos , Literatura Medieval , Masculino , Mitologia , Quiasma Óptico/fisiopatologia , Doenças do Nervo Óptico/fisiopatologia , Poesia como Assunto , Retratos como AssuntoRESUMO
BACKGROUND/AIMS: True gigantism is an exceptional and fascinating pediatric disease. Our aim in this study was to describe the different etiologies of a large group of children with gigantism and the natural history of their growth. METHODS: In this multicenter study, we considered as giant children, adolescents and adults whose heights were ≥3 SD compared to their target stature or to our population average lengths. Isolated hypogonadism and Klinefelter syndrome were excluded from this series. All underwent clinical exam, and hormonal and neurological investigations. RESULTS: From 1980 to 2010, we observed 30 giants: 26 males (86.6%) and 4 females (mean age 19.8 ± 11 years). Among the 13 patients (40.3%) who consulted before the age of 16 years, 9 had acromegaly and 6 had mental retardation and body malformations. Based on growth hormone (GH) secretion evaluation, 2 groups were observed: pituitary gigantism (n = 16): GH = 150 ± 252 ng/ml (n ≤ 5), and other causes with normal GH (0.7 ± 0.6 ng/ml): 6 Sotos syndrome and 8 idiopathic cases. Only the first group had neurological, ophthalmological, metabolic and cardiovascular complications and received treatment. The result was not optimal as GH normalization was not observed. Reduction of tumor size and decreased GH plasma values were not observed. CONCLUSION: Gigantism predominates in males. The main cause is GH excess. The diagnosis was very late except for cerebral gigantism. Complications were observed in pituitary gigantism only.
Assuntos
Gigantismo/etiologia , Neoplasias Hipofisárias/complicações , Acromegalia/complicações , Adenoma/complicações , Adolescente , Adulto , Argélia , Criança , Feminino , Hormônio do Crescimento/sangue , Humanos , Masculino , Estudos Retrospectivos , Síndrome de Sotos/etiologiaRESUMO
On routine neonatal examination, a newborn term male was noted to have unilateral enlargement of the right lower limb, loose thickened red skin over the palm and widening of all the fingers on the right hand. His body was pinker and warmer on the right side compared with the left and he had a right undescended testicle and hypoplastic scrotum. Radiological examination of the lower limbs demonstrated the enlargement of the soft tissue of the right lower limb compared to the left (Fig. 1). Therefore, the diagnosis was unclear from this constellation of findings and an ophthalmic assessment was requested.
Assuntos
Gigantismo/etiologia , Doenças Retinianas/etiologia , Esclerose Tuberosa/diagnóstico , Gigantismo/diagnóstico , Humanos , Recém-Nascido , Masculino , Doenças Retinianas/diagnóstico , Esclerose Tuberosa/complicaçõesRESUMO
AIM: Pituitary gigantism is a very rare condition; the occurrence of pituitary apoplexy in children younger than 10 years old is even rarer. The aim of our study is to report this exceptional association. OBSERVATION: A boy aged 9 years and 6 months was hospitalized for the first time in November 2011 for symptoms suggesting pituitary apoplexy. The onset of his disease was difficult to determine as his health record has been poorly maintained. On October 10, 2011, he presented to an emergency department with a sudden drop of visual acuity with diplopia and retro-orbital headaches. An ophthalmological exam found very low visual acuity (1/20) with papillary edema. An MRI of the patient's brain revealed a hemorrhagic pituitary process reaching the chiasma, which was compressed, especially on the right side. Thereafter, the patient's vision improved spontaneously. Clinical examination was normal except for gigantism (+5 SD compared to the target stature). Hormonal assessment argued for mixed secretion [growth hormone (GH) = 39 ng/mL, n ≤ 5, prolactin ( PRL) = 470 ng/mL, n < 15]. Other pituitary functions were normal. Visual acuity normalized after 2 months, and an MRI showed a spontaneous reduction of the pituitary tumor. CONCLUSION: This unusual observation is a model of symptomatic pituitary apoplexy with spontaneous resolution in a boy with pituitary gigantism: phenomenon quite exceptional and worth to be reported.
Assuntos
Adenoma Acidófilo/patologia , Gigantismo/patologia , Regressão Neoplásica Espontânea , Apoplexia Hipofisária/patologia , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adenoma Acidófilo/complicações , Criança , Gigantismo/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Apoplexia Hipofisária/etiologia , Neoplasias Hipofisárias/complicaçõesRESUMO
McCune-Albright syndrome (MAS) is characterized by a triad of poly/monoostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies. Association of MAS with GH excess is rare, and in most of the instances somatotropinoma has not been documented. Treatment of patients of MAS with acromegaly is difficult because of thickened calvarium and dysplastic skull bone. We report a 17-year-old girl, who presented with cranio-facial fibrous dysplasia, café-au-lait macules and also had acromegaly due to pituitary macroadenoma, and treated with gamma knife radiosurgery.