Gigantismo acromegaloide. Presentación de un caso

RESUMEN Tanto el gigantismo como la acromegalia pueden deberse a una secreción excesiva de hormona del crecimiento por parte de la hipófisis anterior. Cuando los afectados son jóvenes en edades próximas al cierre de los cartílagos se manifiestan signos y síntomas de gigantismo y de acromegalia. Se presenta el caso de un paciente masculino de 20 años de edad atendido en el Servicio de Endocrinología del Hospital Gustavo Aldereguia Lima de Cienfuegos con manifestaciones clínicas de alta talla, crecimiento acral e hipertensión arterial. Se le realizó prueba de tolerancia oral a la glucosa que midió hormona de crecimiento y confirmó el exceso hormonal. La resonancia magnética contrastada con gadolinio informó macroadenoma hipofisario. Se diagnosticó como gigantismo acromegaloide por un tumor hipofisario productor de hormona del crecimiento. Se realizó exéresis del macroadenoma, con evolución favorable. Es indiscutible la importancia del diagnóstico precoz de esta enfermedad, pues acorta la esperanza de vida, aumenta la mortalidad global no solo por la hipersecreción hormonal, sino también por el efecto de masa del tumor.

ABSTRACT Both gigantism and acromegaly can be due to excessive secretion of growth hormone by the anterior pituitary. When those affected are young, close to cartilage closure, signs and symptoms of gigantism and acromegaly appear. The case of a 20-year-old male patient treated in the Endocrinology Service of the Gustavo Aldereguia Lima Hospital in Cienfuegos with clinical manifestations of tall stature, acral growth and arterial hypertension is presented. An oral glucose tolerance test was performed that measured growth hormone and confirmed the excess of hormones. Gadolinium-enhanced MRI reported pituitary macroadenoma. It was diagnosed as acromegaloid gigantism due to a growth hormone-producing pituitary tumor. The macroadenoma was excised, with a favorable evolution. The importance of early diagnosis of this disease is indisputable, since it shortens life expectancy, increases global mortality not only due to hormonal hypersecretion, but also due to the mass effect of the tumor.

Simpson-Golabi-Behmel syndrome type Ⅰ in neonates caused by GPC3 gene mutation: a case report and literature review / 中华围产医学杂志

Objective:To investigate the clinical and genetic characteristics of Simpson-Golabi-Behmel syndrome (SGBS) type Ⅰ caused by glypican-3 ( GPC3) gene mutations. Methods:Data of one neonate with SGBS type Ⅰ from Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University was reviewed retrospectively. Literature was retrieved to summarize the clinical and genetic characteristics of SGBS type Ⅰ caused by GPC3 mutations, using terms of "Simpson-Golabi-Behmel type Ⅰ", "GPC3" and "glypican-3" from China National Knowledge Infrastructure, VIP database, Wanfang database, and PubMed from January 2010 till April 2021. Results:The male infant was admitted to the hospital at 4 h after birth due to "abdominal distension for 1 h", presenting with dysmorphic facial features, including macrocephaly, coarse face, broad nasal bridge, macrostomia, tongue with a groove in the middle, as well as macrosomatia, supernumerary nipples, and hypospadias. Whole exome sequencing revealed a novel frameshift mutation (c.720delC) in GPC3 gene of the patient and his mother for hemizygous and heterozygous variation, respectively, based on which SGBS type Ⅰwas confirmed. During the follow-up, overgrowth, neuroblastoma, and motor development retardation were found in the boy. In addition to the index patient, 92 cases of SGBS type Ⅰ reported in 31 articles were analyzed, including 89(95.7%) males and 4(4.3%) females. The main clinical features were craniofacial dysmorphism, pre/postnatal overgrowth with multiple congenital anomalies. Most patients were combined with language disorders, motor retardation, and various degrees of dysnoesia, and were more likely to develop embryonic tumors. Among the 93 cases, 11(11.8%) suffered from tumors. Apart from 21 cases of termination, 63 cases were born alive and nine cases died after birth. Pathogenic variants in GPC3 gene were reported in 80 cases, which were nonsense mutation in 25 cases (31.2%), DNA fragment deletion in 21 cases (26.2%), frameshift mutation in 16 cases (20.0%), large duplications in eight cases (10.0%), missense mutation in five cases(6.2%), and splice site mutation in five cases(6.2%). Conclusions:SGBS type Ⅰ is an X-linked recessive genetic disease with various phenotypes. Patients with postnatal craniofacial dysmorphism, overgrowth, and multiple congenital anomalies should be highly suspected of SGBS type Ⅰ. Genetic testing is conducive to its early diagnosis. Treatment requires multidisciplinary cooperation and long-term follow-up, especially for those with tumors.

Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.

Isolated Progressive Congenital Left Thumb Macrodactyly : Case Report and Literature Review

@#Isolated progressive macrodactyly belongs to a heterogeneous group of congenital overgrowth syndromes, resulting in enlargement of all tissues localized to the terminal portions (fingers or toes) of a limb. The aim of this case report is to create further awareness among physicians on this rare clinical entity and present a short review of the literature. We present the case of a 10-year-old Nigerian girl with a history of progressive overgrowth of left thumb since birth. The patient‟s facies and body habitus were normal without hemihypertrophy. Anthropometric measurements of the child‟s hands, revealed an overgrowth of the left thumb compared with the right. The child had no café-au-lait spots or any other skin lesions. The radiograph of the hands revealed increase in size of both soft tissue and phalangeal bones (enlongated and broadened) of the left thumb. A diagnosis of isolated progressive left thumb macrodactyly was made and the patient was referred to the orthopaedic surgeon for surgical intervention. The child and her parents suffered psychological distress. Isolated progressive macrodactyly is very rare but it is cosmetically displeasing to the child, resulting in psychological distress.

Treatment of acromegaly patients at the Federal University of Triângulo Mineiro (UFTM): Experience Report

OBJECTIVE: To evaluate the effectiveness of the treatment of acromegaly patients at the Federal University of Triangulo Mineiro. METHODS: Cross-sectional and retrospective study of thirty cases treated over a period of two decades. RESULTS: 17 men (56.7%) aged 14-67 years and 13 women aged 14-86 years were analyzed. Twenty-one patients underwent transphenoidal surgery, whichwas associated with somatostatin receptor ligands in 11 patients (39.3%), somatostatin receptor ligands + radiotherapyin 5 patients (17.8%), radiotherapy in 3 patients (10.7%), and radiotherapy + somatostatin receptorligands + cabergoline in 1 patient (3.6%). Additionally, 2 patients underwent radiotherapy and surgeryalone. Six patients received somatostatin receptor ligands before surgery, and 2 were not treated due to refusal and death. Nine patients have died, and 20 are being followed; 13 (65%) have growth hormonelevels o1 ng/mL, and 11 have normal insulin-like growth factor 1 levels. CONCLUSION: The current treatment options enable patients seen in regional reference centers to achieve strict control parameters, which allows them to be treated close to their homes.

Signature Genes in Macrodactyly through Transcriptome Network Analysis Reveal their Association of Lipid Metabolism / 체질인류학회지

Macrodactyly is one of the most difficult hand anomalies to treat not only surgically but medically as well. Little is known about the molecular pathways and lipid metabolism of this disease. To elucidate the potential mechanism of macrodactyly progress, we used the bioinformatical analysis including quantile normalization, principal component analysis, heatmap and volcano plot. For the functional bioinformatical study, lipid, lipoprotein and phospholipid metabolism of Kyoto Encyclopedia of Genes and Genomes, Wiki Pathways, and Reactome Pathway were utilized to compare the differentially expressed genes in macrodactyly with control group. We found up-regulation of CDK6 and E2F1, which are associated with the mitotic cell cycle of cancer cells. PIK3CG, associated with cancer and lipid metabolism, was also enriched in macrodactyly. In down-regulated genes, PTEN was highlighted in lipid metabolism, phosphatidylinositol signaling system and insulin signaling. ABCD3, related in peroxisomal import of fatty acids, was also down-regulated. In this study, we predicted the pathogenic candidate genes as well as the potential molecular pathways related to macrodactyly by identifying the signature genes. Signature genes through systems bioinformatical analysis can be utilized to catch the insight of the molecular pathogenesis of macrodactyly.

Presentación de un adolescente con gigantismo / Presentation of an Adolescent with Gigantism

El gigantismo es una enfermedad hormonal causada por la excesiva secreción de la hormona del crecimiento por parte de la hipófisis anterior antes del cierre la epífisis del hueso, que ocasiona un crecimiento desmesurado de la estatura de todo el cuerpo. Se presentó el caso de un adolescente de 18 años, procedente de una comuna pobre de Haití, con dolor en miembros inferiores y decaimiento, refiere historia previa de crecimiento exagerado en la longitud de su cuerpo, en las manos y pies. En el examen físico se confirmó talla de 2,17 metros y se detectó retardo discreto en el desarrollo sexual. Los síntomas y los exámenes complementarios orientan el diagnóstico clínico de gigantismo, asociado a un hipogonadismo e hipofunción tiroidea discreta; por dificultades económicas se pospuso la detección humoral de la hormona de crecimiento y la realización de la tomografía axial computarizada o una resonancia magnética para el diagnóstico certero.

Gigantism, a hormonal disease caused by the excessive secretion of the growth hormone of the anterior pituitary gland, while the epiphysis of the bones is not still closed, it causes an overgrowth body gain height. An 18- year-old male teenager suffering from pain in arms and legs, from his early years presented an overgrowth of all his body, in the physical exam and 2.17 meters of height. He also presented a slow development in his sexual organs. The symptoms found, together with some other test showed a diagnosis of gigantism associated with mild hypogonadism and thyroid hypofuntion. To know the growth hormone, a computer axial tomography and a magnetic resonance were needed in order to determine an exact diagnosis but it was postponed because of for financial reasons.

In the land of giants: the legacy of José Dantas de Souza Leite / Na terra de gigantes: o legado de José Dantas de Souza Leite

The authors describe the extraordinary contribution to science made by José Dantas de Souza Leite, who graduated from the Bahia School of Medicine and trained in Prof. Charcot’s Neurology Service under the supervision of Charcot’s most able pupil, Dr. Pierre Marie. Souza Leite presented his doctoral thesis on acromegaly, in Paris in 1890, and in the following year both him and Pierre Marie published a book on the subject, “Essays on Acromegaly”. This exceptional work established Souza Leite internationally as an important researcher, and the first Brazilian physician to contribute to the development of neuroendocrinology in an innovative way.

Os autores apresentam a extraordinária contribuição científica do Dr. José Dantas de Souza Leite, médico formado pela Faculdade de Medicina da Bahia, e interno do Serviço de Neurologia do Professor Charcot, onde estagiou sob supervisão do seu melhor discípulo, Pierre Marie. Souza Leite apresentou a sua tese de doutoramento em Paris sobre acromegalia, no ano de 1890. Um ano mais depois, publicou o livro “Essays on Acromegaly” em coautoria com Pierre Marie. Este trabalho excepcional consagrou Souza Leite como grande pesquisador no cenário internacional e o primeiro médico brasileiro a contribuir de maneira inovadora para o desenvolvimento da neuroendocrinologia mundial.

Gigantism caused by growth hormone secreting pituitary adenoma

Gigantism indicates excessive secretion of growth hormones (GH) during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL). Magnetic resonance imaging (MRI) of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL). Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings.

Macrodystrophia lipomatosis : a rare congenital anomaly.

Macrodystrophia Lipomatosis is rare congenital hamartomatous enlargement of soft tissue components leading to gigantism of single, multiple digits or entire limb. Clinical findings are recognised as early as in neonatal period to late adulthood. Patients usually present for either cosmetic corrections or mechanical problems. We report a case of 8 year old female with progressive increase in size of left 2nd and 3rd toes. X-ray findings show congenital focal enlargement of soft tissues and bones of 2nd and 3rd toes and adjacent metatarsals. Clinical and radiological features of our patient points out towards this uncommon condition.

Macrodistrofia lipomatosa. Reporte de un caso / Macrodystrophia lipomatosa. Case presentation

Introducción: la Macrodistrofia lipomatosa (ML), es un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La causa de la ML no está esclarecida. Objetivo: reportar un infante con ML y antecedentes familiares paternos de deformidad podálica de tipo pie griego. Presentación de un caso: infante de 11 meses de edad, de sexo masculino, que acude a la consulta de Ortopedia y Traumatología del CDI Concepción, ubicado en el Municipio La Cañada de Urdaneta del Estado Zulia en Venezuela, con un exagerado crecimiento del segundo artejo izquierdo y leve aumento de tamaño del primero. Discusión: la ML es una malformación infrecuente, que puede presentarse tanto en miembros inferiores como en superiores, y en la que pudiera existir confusión con algunas afecciones clínicas de las cuales se debe hacer un adecuado diagnóstico diferencial. Conclusiones: es importante la evaluación de cada caso con un equipo multidisciplinario que incluya además a Pediatras y Genetistas, con vistas a definir adecuadamente el diagnóstico y la terapéutica.

Introduction: Macrodistrofia Lipomatosa (ML) consists of a disproportionate increase of the fibro adipose tissue in one or more fingers or toes. This congenital anomaly is more often present in the territory supplied by the median nerve in the upper limbs and the plantar nerve in the lower limbs. Its causes are not clear yet. Objective: report a case of an infant suffering ML and paternal family history of deformity Greek foot like. Case presentation: 11 months male infant, attending the practice of Orthopedics and Traumatology of the Integral Diagnose Center (IDC) «Concepcion¼, Cañada de Urdaneta Municipality, State of Zulia, Venezuela suffering an exaggerated growth of the second left toe and a slight increase of the first toe. Discussion: ML is an uncommon malformation that may appear both in lower and upper limbs, and it might mislead diagnose, producing confusion with other ailments, being necessary a proper differential diagnose. Conclusion: it is important the assessment of every case by a medical team compose of Pediatricians and Geneticists in order to properly define diagnose and therapy.

Macrodystrophia Lipomatosis: A Case Report.

Macrodystrophia Lipomatosa is a rare cause of congenital macrodactyly characterized by progressive proliferation of all mesenchymal elements, with disproportionate increase in fibroadipose tissue. This anomaly is reportedly more common in the foot than in the hand with predilection for the plantar and median nerve distribution. This rare cause of gigantism of limb can be confused with other common causes like congenital lymphedema. We report a case of 2 years old female child presenting in outdoor as a painless progressive enlargement of index finger, middle finger and thumb of right hand since 6 months of age causing mechanical difficulty.

Acromegalia. Presentación de un caso / Acromegaly. A case report

La acromegalia es una enfermedad crónica que causa deformación somática, limitaciones físicas y psicológicas en los pacientes; puede tener un curso insidioso, provocar la muerte del enfermo debido a la hipersecreción crónica y sostenida de la hormona del crecimiento. El diagnóstico de la acromegalia se basa en criterios clínicos, estudios imagenológicos y la confirmación bioquímica del hipersomatotropismo; su tratamiento comprende tres aspectos: tratamiento neuroquirúrgico, medicamentoso y radioterapia. Es importante realizar un diagnóstico y tratamiento precoz, pues los pacientes acromegálicos tienen limitada su expectativa de vida y presentan cifras de mortalidad elevada entre el 2 y 4 veces por encima de la población general. Se trata de una paciente femenina de 46 años de edad, con alteraciones fundamentalmente del campo visual, que se confirmó el diagnóstico de acromegalia y remitió al Instituto Nacional de Cirugía de Mínimo Acceso para su intervención quirúrgica por vía endoscópica. Recibió el tratamiento con octeótride y cirugía; según los resultados bioquímicos y de la resonancia magnética nuclear realizada posterior a la cirugía es tributaria de tratamiento con radioterapia.

Acromegaly is a chronic disease that provokes somatic deformities, physical and psychological limitations in patients suffering from this condition; which can have an insidious development that can lead to death due to a chronic and continue hypersecretion of growth hormone (GH). The diagnosis of Acromegaly is based on clinical criteria, imaging studies and biochemical confirmation of hyper-somatotropism; the treatment includes three main aspects: neurosurgery, medication and radiation. Early diagnosis and treatment is very important since acromegalic patients have limited life expectancy and high mortality rates of 2 or 4 times greater than the general population. A case of a 46-year old female patient suffering from significant alterations of visual field was examined, the diagnosis of Acromegaly was confirmed and she was referred to the National Institute of Minimal Access Surgery to perform a surgical exploration. The patient underwent a treatment with octreotide and surgery; in view of the results of biochemical and nuclear magnetic resonance carried out after the surgery the patient needed radiation.

Proteus syndrome: A rare case report.

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

Familial gigantism

Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

A Case of Klinefelter Syndrome Differentially Diagnosed as a Cause of Gigantism / 대한내과학회지

Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype.

Macrodistrofia lipomatosa: reporte de un caso / Macrodystrophia lipomatosa: a case report

Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.

La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.

Casuística de pacientes com queixa principal de alta estatura atendidos em serviço de referência em Salvador, Bahia / Analysis of patients with chief complaint of tall stature seen at a referral hospital in Salvador, Bahia, Brazil

Objetivo: Descrever uma casuística de pacientes atendidos em serviço de referência em endocrinologia pediátrica com queixa principal de alta estatura. Métodos: Revisão de prontuários de 1.980 pacientes atendidos no período de janeiro de 2003 a janeiro de 2007, incluindo apenas os indivíduos cuja queixa principal, na primeira consulta, fosse sua alta estatura.Resultados: Foram encontrados 16 pacientes (0,8% do total de primeiras consultas). Destes, 12 preenchiam critérios diagnósticos de alta estatura (escore Z do indicador estatura para idade-ZE/I>2). Sete (58%) eram do sexo masculino. A idade em primeira consulta variou entre 3 anos e 4 meses e 13 anos e 3 meses. O ZE/I variou de 2,18 a 5,99 e a altura-alvo, de -1,10 a 1,24. Em relação às causas da alta estatura, concluiu-se que: sete pacientes (58%) tinham alta estatura familiar; dois (17%) idiopática e três (25%) sofriam de causas patológicas (síndrome de Marfan em um e adenoma hipofisário em dois deles). Nos quatro demais, o ZE/I variou de 1,86 a 1,98, não preenchendo critérios para alta estatura. Nestes, a etiologia do crescimento excessivo foi idiopática em dois, familiar em um e causado pela síndrome de Weaver em outro. Conclusões: A distribuição das etiologias de pacientes avaliados com a queixa de alta estatura está de acordo com a literatura, que relata ser familiar a principal causa. Embora alta estatura seja uma queixa principal pouco freqüente no consultório de endocrinologia pediátrica, a investigação deve ser cuidadosa a fim de se afastarem causas patológicas, que constituíram 25% dos casos.

Objective: To describe patients followed at a referral service in pediatric endocrinology with the chief complaint of tall stature. Methods: Chart review of 1,980 patients evaluated from January 2003 to January 2007, being selected only individuals whose main complaint in the first consultation was tall stature. Results: 16 patients were selected (0.8%) and 12 of them fulfilled the diagnostic criteria for tall stature (height Z score for age-ZH/A>2). Seven (58%) patients were males. The age at the first evaluation ranged from 3 years and 4 months to 13 years and 3 months. The ZH/A ranged from 2.18 to 5.99 and the Z score for target height ranged from -1.10 to 1.24. Regarding the causes of tall stature: seven patients (58%) had familiar causes of tall stature, two (17%) had idiopathic tall stature (ITS), and three (25%) of them presented a pathologic cause (Marfan'ssyndrome in one and pituitary adenomas in two). In the other four patients, ZH/A varied from 1.86 to 1.98 and did not fulfill the diagnostic criteria for tall stature. In this group, the diagnoses were: idiopathic in two, familial in one and Weaver's syndrome in another patient.Conclusions: The distribution of etiologies of patients evaluated with the chief complaint of tall stature corresponds to the literature, in which familial cases constitute the primary cause. Although tall stature is not a frequent complaint, the investigation of these patients should be performed in a thorough way in order to early diagnose secondary causes, which constituted 25% of our study cases.

A case of Breast Gigantism in a Patient with Wilson's Disease treated by Penicillamine / 한국유방암학회지

We report a case of breast gigantism in a patient with Wilson's disease treated with penicillamine. A 19-year-old female with alleged Wilson's disease visited our hospital due to diffuse enlargement of both breasts. She had been treated with penicillamine 1,000 mg/day since her age of 15 after diagnosis of Wilson's disease. At the initial presentation, there were diffuse skin thickenings in both lower inner breasts and huge lesion which replaced almost all the breast parenchyma. After gun biopsy and excision for tissue diagnosis, fibroadenoma with ductal epithelial hyperplasia was diagnosed. Although daily dose of penicillamine was lowed to 500 mg/day, her symptom progressed. After 1 year of follow up, she and her parents strongly wanted to remove her breasts because of distorted body shape and weight of breasts. The patients underwent subcutaneous mastectomy with the designed incision of the reduction mammoplasty for the future mammoplasty. Although the breast gigantism is a rare side effect of penicillamine, female patients should be followed up cautiously for the possible change of breasts. Because penicillamine is no more the first choice for Wilson's disease, it would be better to avoid using penicillamine for Wilson's disease patients especially for the young females.

A case of Breast Gigantism in a Patient with Wilson's Disease treated by Penicillamine / 한국유방암학회지

We report a case of breast gigantism in a patient with Wilson's disease treated with penicillamine. A 19-year-old female with alleged Wilson's disease visited our hospital due to diffuse enlargement of both breasts. She had been treated with penicillamine 1,000 mg/day since her age of 15 after diagnosis of Wilson's disease. At the initial presentation, there were diffuse skin thickenings in both lower inner breasts and huge lesion which replaced almost all the breast parenchyma. After gun biopsy and excision for tissue diagnosis, fibroadenoma with ductal epithelial hyperplasia was diagnosed. Although daily dose of penicillamine was lowed to 500 mg/day, her symptom progressed. After 1 year of follow up, she and her parents strongly wanted to remove her breasts because of distorted body shape and weight of breasts. The patients underwent subcutaneous mastectomy with the designed incision of the reduction mammoplasty for the future mammoplasty. Although the breast gigantism is a rare side effect of penicillamine, female patients should be followed up cautiously for the possible change of breasts. Because penicillamine is no more the first choice for Wilson's disease, it would be better to avoid using penicillamine for Wilson's disease patients especially for the young females.