Osteopetrosis and Congenital Hypothyroidism Complicated by Slipped Capital Femoral Epiphysis

ObjectiveTo describe a 13-year-old girl with unilateral slipped capital femoral epiphysis (SCFE), who presented with an acute onset limp during follow-up for congenital hypothyroidism and osteopetrosis.MethodsWe present a case report detailing the patient’s history as well as clinical, laboratory, and imaging findings and discuss the related literature.ResultsThe patient had been diagnosed elsewhere with congenital hypothyroidism, and levothyroxine therapy was initiated when she was 20 days of age; however, adherence to the treatment was irregular. Both her weight and her height were below the 5th percentile, her breast development and pubic hair were consistent with Tanner stage 1, and she had mental retardation and atypical facies. Her gait was antalgic; no muscle atrophy or shortness in the affected leg was present. On laboratory investigation, thyroid function tests were concordant with primary hypothyroidism. Her bone age was estimated as 8 years. Dual-energy x-ray absorptiometry revealed increased bone mineral density. Radiographic studies disclosed striking opacity of the bones of the pelvis and sclerosis at the skull base. Computed tomography of the affected left lower limb showed a fragmented appearance of the capital femoral epiphysis and thickening and irregularities of the physis line on the left, consistent with SCFE.ConclusionWe underscore the possible facilitator role of osteopetrosis in the pathogenesis of SCFE, suggest the need to consider SCFE in the differential diagnosis when a lower extremity abnormality is detected in patients with congenital hypothyroidism or delayed puberty (or both), and emphasize this association with osteopetrosis.(Endocr Pract. 2010;16:646-649)     

Endocrine Dysfunction and Slipped Capital Femoral Epiphysis

Five patients with concomitant endocrinopathy and slipped capital femoral epiphysis were studied in detail. One had diabetes and hypothyroidism, one had hypothyroidism, one had hypergonadotropic hypogonadism and two had a craniopharyngioma (one of whom had severe panhypopituitarism post-operatively). An additional seven patients with cranio-pharyngioma revealed marked delay in closure of epiphyses and an additional undiagnosed case of slipped capital femoral epiphysis. Of the six patients with slipped capital femoral epiphysis, three had bilateral and three unilateral involvement. Of the five patients undergoing surgical stabilization, there was significant delay of epiphyseodesis, prompting us to recommend concomitant bone grafting. Histological examination of the femoral head from a three year old child with panhypopituitarism showed marked irregularity of the growth plate and loss of columnar integrity, which may be a predisposing factor to slipping in older children with endocrinopathies. The effects of various hormones on the physis are specifically discussed, especially as they relate to the possible etiology of slipped capital femoral epiphysis.     

Cartilage Space Width in Slipped Capital Femoral Epiphysis: The Relationship to Cartilage Necrosis

The radiolucent cartilage space of eighty-three patients with unilateral or bilateral slipped capital femoral epiphysis was measured by a standardized technique. In the majority of patients, whether unilateral or bilateral involvement, there was bilateral narrowing of the cartilage space. In the unaffected hip of unilaterally involved patients, there was a progressive narrowing as skeletal maturity was attained. A concomitant anatomical study of cadaver hips, removed at autopsy from adolescent patients, showed a progressive narrowing of the cartilage as the proximal femur matured. Black females showed most narrowing (minimum cartilage space width), had the narrowest final cartilage space widths, and took the longest to attain this final width. While other racial, sexual and therapeutic groups failed to demonstrate statistically significant differences, the general trend was for females, Blacks, and patients treated by osteotomy to have more joint space narrowing. However, rewidening occurred in most of these affected joint spaces, in contrast to the progressive linear decrease observed in unaffected hips and anatomical specimens. On the basis of this study, we feel that cartilage space narrowing may be anticipated in the post-operative period in most patients treated for slipped capital femoral epiphysis. This narrowing appears to improve with time. Narrowing of greater than one-half the original width, in association with pain and limitation of joint function, probably represents “cartilage necrosis,” or pathologic joint space narrowing. Unless the narrowing remains less than one-half to two-thirds of the initial cartilage space for more than twenty-four to thirty-six months, probably no specific surgical treatment should be undertaken, other than observation and protected weight bearing during any painful phase. Plotting the roentgenographic cartilage space width during the three month to thirty-six month phase may be useful in monitoring and predicting the outcome.     

Iatrogenic Osteoporosis,Bilateral Hip Osteonecrosis,and Secondary Adrenal Suppression in an Hiv-Infected Man Receiving Inhaled Corticosteroids and Ritonavir-Boosted Highly Active Antiretroviral Therapy

ObjectiveTo report the first case of severe osteoporosis associated with a vertebral pathologic fracture and osteonecrosis of femoral heads in an HIV-infected man receiving inhaled corticosteroids and ritonavir-boosted antiretroviral therapy.MethodsWe describe an HIV-infected man with severe osteoporosis, bilateral hip osteonecrosis, and secondary adrenal suppression, including detailed clinical, laboratory, and radiographic data, and review the related literature.ResultsA 60-year-old man with a 15-year history of HIV infection and a medical history of long-standing bronchiectasis treated with inhaled corticosteroids and hypogonadism treated with testosterone was referred to the endocrinology clinic after experiencing an osteoporotic vertebral fracture. He was taking ritonavir-boosted antiretroviral therapy. Osteonecrosis of both hips was also diagnosed, which required total hip replacement therapy.Laboratory evaluation revealed adrenal insufficiency due to increased effect of exogenous inhaled steroids and no other secondary causes of osteoporosis. A bone densitometry study showed osteoporosis of both hips and the lumbar spine. He was treated with intravenous pamidronate. During treatment, he developed bilateral femoral fractures after minor trauma.ConclusionsGiven the potential for increased serum levels of inhaled corticosteroids in patients taking ritonavirboosted highly active antiretroviral therapy, attention must be paid to the risk of bone loss in HIV-infected patients taking inhaled corticosteroids. Prescribing calcium and vitamin D supplementation and considering early osteoporosis screening are reasonable measures for this patient population. Interaction between inhaled corticosteroids and ritonavir may increase risk of hypothalamus-pituitary-adrenal axis suppression. (Endocr Pract. 2011;17:74-78)     

Remission of Acromegaly After Pituitary Apoplexy: Case Report and Review of Literature

ObjectiveTo identify and present cases of acromegaly in which pituitary apoplexy resulted in remission of acromegaly, with normalization of insulinlike growth factor-I and growth hormone levels.MethodsWe present a case history of a personal patient and review the related literature in PubMed and Ovid MEDLINE.ResultsA 34-year-old man with classic acromegaly had spontaneous pituitary apoplexy, resulting in remission of his acromegaly and diabetes. Moreover, we identified 21 other similar cases in the literature and analyze the clinical presentations, possible apoplexy triggers, and hormonal sequelae. All these patients were “cured” of acromegaly, and 68% of them experienced other pituitary hormone insufficiencies after pituitary apoplexy, including 2 cases of panhypopituitarism.ConclusionPituitary apoplexy can result in remission of acromegaly and in partial or complete anterior or posterior (or both) pituitary insufficiency. Thus, after suspected or confirmed pituitary apoplexy, pituitary hormone secretion must be reevaluated. This assessment may result in initiation of appropriate substitution therapy, a change in management of growth hormone overproduction, or both interventions. (Endocr Pract. 2009;15:725-731)     

Prepubertal onset of slipped capital femoral epiphysis associated with hypothyroidism: a case report and literature review

Background

Slipped capital femoral epiphysis (SCFE) is a common hip disorder characterized by displacement of the capital femoral epiphysis from the metaphysic through the femoral epiphyseal plate. SCFE usually occurs during puberty, with obesity a common risk factor. We experienced a rare case of SCFE associated with hypothyroidism in a prepubescent patient who was not obese.

Case presentation

The patient was an 8-year-old boy suffering from bilateral SCFE with hypothyroidism. The patient’s growth had started to slow at 4 years of age, and at 8 years he was of short stature. During his evaluation for SCFE management, primary hypothyroidism was diagnosed due to the presence of anti-thyroid peroxidase and anti-thyroglobulin antibodies. After the patient was treated for hypothyroidism, which improved his thyroid function, surgery was performed for bilateral SCFE.

Conclusions

Among the 42 patients with SCFE associated with hypothyroidism in the literature, most SCFE occurred during puberty or in adults with delayed epiphyseal closure. Only two patients (4.8%), including the present patient, were ≤9 years old. Although being overweight or obese is common for patients with SCFE associated with hypothyroidism (76.0%), it was not observed in the present case. Persistent hypothyroidism, however, may be a risk factor for SCFE even before puberty and without obesity.

     

Gonad protection in young orthopaedic patients.

OBJECTIVE--To determine whether gonad shields are correctly positioned on the pelvic radiographs of children with slipped capital femoral epiphysis. DESIGN--Retrospective study of radiographs taken of children treated by in situ pinning of slipped capital femoral epiphysis between 1 January 1983 and 31 December 1988. SETTING--Three teaching hospitals in north west England. PATIENTS--32 patients with complete set of radiographs. RESULTS--An average of 10.8 anteroposterior pelvic radiographs plus 8.9 lateral hip radiographs had been performed per patient. Gonad shields had been completely omitted in 137 (40%) anteroposterior pelvic radiographs performed on the 32 patients at the time of completion of the study. In 100 (29%) the gonad shields were adequately protecting the gonads, but in 109 (31%) the gonad shields were not protecting the gonads due to incorrect positioning of the shield. The incorrect positioning of the gonad shields was more commonly found in girls than boys (64 vs 45; p less than 0.012), presumably because of the difficulty in determining gonadal position in relation to surface landmarks. Absence of gonad shields was also more commonly seen in girls (82 v 55; p less than 0.005), but this is not easily explained. CONCLUSIONS--Gonad shields are not protecting the gonads in a large percentage of anteroposterior pelvic radiographs (71%) because they have been omitted or inadequately placed. This avoidable excess radiation exposure to the gonads, combined with the inability to shield the gonads in lateral hip radiographs and the large number of radiographs performed, results in the gonads receiving a higher dose of radiation than may otherwise be the case, and may increase the potential for disease in the future offspring of these patients.     

Turner Syndrome: Transition from Pediatrics to ADULTHOOD

ObjectiveTo highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS).MethodsThe morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent selfcare and autonomy in adolescent patients.ResultsAn essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during earlystage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity.ConclusionThe transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood. (Endocr Pract. 2008;14:775-781)     

Risks and Benefits of Estrogen Therapy for a Male-to-Female Transsexual with a Prothrombin Gene Mutation

ObjectiveWe present the case of a male-to-female transsexual person in her 20s requesting hormone therapy in the setting of a history of a deep venous thrombosis and pulmonary embolus and carrying the prothrombin G20210A gene mutation.MethodsWe interviewed the patient and reviewed her medical records. We carefully weighed the risks and benefits of hormone therapy and took into account two important ethical principles: beneficence (to act in the patient’s best interest) and nonmaleficence (to avoid harm).ResultsOur patient presented to an outside facility with weight loss, generalized weakness, right lower extremity swelling, and chest pain. She was diagnosed with a pulmonary embolus and extensive deep venous thrombus by computed tomography (CT) scan and Doppler ultrasound, respectively. She was found to carry the pro-thrombin G20210A gene mutation. She was treated with anticoagulation therapy for 12 months, which was restarted prior to beginning therapy with transdermal estrogen.ConclusionWhile the exact risk of recurrent deep venous thrombosis and pulmonary embolus in our patient is unknown, we recommended that hormone therapy should only be given in conjunction with anticoagulation. We speculate that this strategy would allow the patient to experience the benefits to her overall well-being with hormone therapy while reducing the risks of venous thrombosis to acceptable levels. Prospective long-term follow-up of this patient is needed to verify the benefits and risk of the intervention chosen. (Endocr. Pract. 2013;19:e150-e153)     

Rapid Hypercalciuria Induction With Bone Formation Marker Reduction During Immobilization in Children

ObjectiveTo prospectively examine the occurrence of hypercalciuria and changes in bone metabolite markers in pediatric patients during immobilization.MethodsIn total, 13 children with an orthopedic disease requiring immobilization longer than 2 weeks were enrolled. Blood samples were collected after breakfast. Urine samples were collected at the second voiding after waking. The urine calcium/creatinine (Ca/Cr) ratio and various bone metabolite parameters were measured before and every 1 to 4 weeks after the start of immobilization.ResultsThe median patient age was 7 years with a range of 2 to 13 years. Orthopedic diseases in the patients were dislocated hip joint (N = 7), slipped capital femoral epiphysis (N = 2), etc. The urine Ca/Cr ratio increased significantly within a week after immobilization (P < .01) and continued to increase for 2 more weeks. Once immobilization ended, the urine Ca/Cr ratio gradually decreased and returned to the normal range approximately 6 weeks after mobility was achieved (P < .01). Serum alkaline phosphatase (ALP) and bone-specific ALP significantly decreased after immobilization began (P < .01). After immobilization ended, the serum ALP returned to preimmobilization levels in 2 to 4 weeks (P < .01). Serum N-terminal telopeptides did not change significantly during immobilization.ConclusionThe urine Ca/Cr ratio immediately increased after immobilization. In contrast to adults, bone formation markers in children decreased during immobilization, whereas bone resorption markers did not increase. To our knowledge, this study is the first to examine bone metabolism markers in children during immobilization.     

Acromegaly as An Endocrine Form of Myopathy: Case Report and Review of Literature

ObjectiveTo describe a case of muscle weakness in a patient with acromegaly and to review the pathophysiologic features of this disorder.MethodsWe present the clinical, laboratory, electromyographic, and muscle biopsy findings in our patient and review related reports in the literature.ResultsA 58-year-old woman with acromegaly presented with complaints of bilateral hip pain, weakness, and instability 8 months after transsphenoidal resection of a growth hormone (GH)-secreting pituitary macroadenoma. She had biochemically normal thyroid and adrenal function and no evidence of any neuropathy, inflammatory myopathy, or rheumatologic disorder to explain her symptoms. Investigations revealed increased levels of GH, insulin-like growth factor-I, serum creatine kinase (CK), and the MB fraction of CK, normal results of nerve conduction studies, and nonspecific findings on electromyography and muscle biopsy. A review of the literature revealed that although muscle weakness is a well-recognized feature of acromegaly, only a few cases similar to ours have been reported since acromegaly was first described in the late 1800s. Little is known about the natural history, best diagnostic approach, and optimal therapy for this debilitating complication.ConclusionMuscle weakness in acromegaly is common and may result from a combination of the direct effect of GH excess on muscle and other metabolic derangements (hypothyroidism, hypoadrenalism, or diabetes). Mechanical factors may also contribute, such as joint laxity in conjunction with hypermobility. Affected patients may benefit from a reduction in GH levels and physiotherapy for adaptive training. Persistently increased serum CK levels in a patient with diabetes, for whom no other cause is found, should prompt an investigation for acromegaly. More research into this aspect of acromegaly is needed for enhancement of our understanding of, and therapy for, this debilitating condition. (Endocr Pract. 2005;11:18-22)     

Slipped capital femoral epiphysis and hypothyroidism in a young adult: a case report

Introduction

Slipped capital femoral epiphysis is the most common hip disorder affecting the adolescent population, usually individuals between 8 and 15 years old. However, there are few case reports of older patients in the literature to date. It is believed that the etiology is multifactorial and may include obesity, trauma and, less frequently, endocrine pathologies comprising hypothyroidism, hypogonadism and panhypopituitarism.

Case presentation

We present the case of a 28-year-old Latino woman diagnosed with hypothyroidism secondary to arachnoidocele associated with skeletal immaturity and slipped capital femoral epiphysis.

Conclusions

It is important to conduct clinical and radiographic studies in these patients to rule out endocrine pathologies, especially hypothyroidism in those of sexual maturity.

Electronic supplementary material

The online version of this article (doi:10.1186/1752-1947-8-336) contains supplementary material, which is available to authorized users.     

Atypical Femoral Fracture in an Osteogenesis Imperfecta Patient Successfully Treated with Teriparatide

ObjectiveWe report a case of a successfully healed atypical femoral fracture (AFF) following treatment with teriparatide in a patient with osteogenesis imperfecta (OI). To our knowledge, no successful treatment of AFFs with teriparatide in this subpopulation has ever been described.MethodsThis is a case report of an AFF treated with teriparatide.ResultsThe patient was treated with hormone replacement therapy for 18 years and bisphosphonates for 9 years before suffering a spontaneous AFF in the form of a dislocated noncomminute transverse fracture of the right femoral shaft, and an open reduction and internal fixation (ORIF) with a T2 Femoral Nail was done. Due to nonunion and another fracture distal to the nail, the patient was reoperated on with exchange ORIF and off-label treatment with teriparatide 20 μg/day was started. An X-ray 1 month later showed early signs of fracture healing. A subsequent X-ray 6 months after the last operation showed a solid healing of both right femoral fractures.ConclusionThis is a rare case that highly suggests a potential fracture healing effect of teriparatide treatment and highlights a potential significant practical therapeutic consideration in relation to the management of AFF with delayed healing. (Endocr Pract. 2014;20:e187-e190)     

An Interesting Case of Peripheral Vascular Disease,Vascular Reperfusion,and Subsequent Development of Pain Due to Paget's Disease of Bone

ObjectiveTo present a case of Paget’s disease of bone that was unmasked after vascular reperfusion.MethodsIn this case study, we review the presentation, evaluation, diagnosis, and management of a patient with Paget’s disease and peripheral vascular disease.ResultsA 79-year-old-woman with a history of coronary artery heart disease and recent finding of a T5 compression fracture was hospitalized for evaluation of right lower extremity claudication. Angiography demonstrated a focal complete occlusion of the distal right femoral and popliteal arteries. A self-expanding stent was placed in the distal femoral and popliteal arteries. Approximately 48 hours after the procedure, the patient developed severe, right lower leg pain. On endocrine evaluation, the patient was found to have clinical signs suggesting Paget’s disease of bone, which was subsequently confirmed by imaging.ConclusionThis patient’s development of severe pain following reperfusion of distal femoral and popliteal arteries is in keeping with the known and aforementioned hypervascularity of pagetic bone. The finding of increased warmth over an area of skeletal deformation should always raise the possibility of Paget’s disease of bone.(Endocr Pract. 2013;19:e61-e63)     

Bilateral Ovary Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Following Adrenalectomy

Objective:In contrast to the high incidence of testicular adrenal rest tumors in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumors (OARTs) in female CAH patients are rare. In this case report, we describe a case of bilateral OART in a female patient with CAH due to 21-hydroxylase deficiency.Methods:We present a detailed case report with the clinical, imaging, and laboratory findings of the patient. The pertinent literature is also reviewed.Results:A 17-year-old patient was known to have CAH due to 21-hydroxylase deficiency. Since the second month of her gestational age, her mother was treated with cortisone-replacement therapy. The patient was treated with hydrocortisone and fludrocortisone since the neonatal period. Her pertinent history included a bilateral adrenalectomy at the age of 13 years in 2006, and for 3 years she led a normal puberty life with no complaint with hormonal replacement therapy. Nevertheless, in 2009, she developed a virilizing syndrome. Subsequently, she underwent surgery in December 2009 for right adnexectomy. However, the regression of the masculinizing mass was not complete and worsened several months after the surgery. A new pelvic magnetic resonance image showed the activation of a contralateral ovarian mass, necessitating a left adnexectomy in August 2010.Conclusion:This case demonstrates some interesting features of OART that pose challenges to its management. If an OART is detected early enough and glucocorticoid therapy is received, it is possible that the OART will decrease in size following suppression of adrenocorticotropic hormone levels. (Endocr Pract. 2014;20:e69-e74)     

Teriparatide as a Systemic Treatment for Lower Extremity Nonunion Fractures: A Case Series

ObjectiveTo investigate the effect of teriparatide (parathyroid hormone [1-34]) on the healing of long bone nonunion fractures.MethodsWe performed a retrospective chart review of patients with fracture nonunion, aged 10 to 99 years who were treated with teriparatide at the Children’s Hospital of Philadelphia or the Hospital of the University of Pennsylvania between November 2002 and January 2013. The primary endpoints were radiographic evidence of callus formation and fracture union, ability to bear weight without affected limb limp, and normal range of motion and strength.ResultsSix patients aged 19 to 64 years with tibial or femoral fractures that had not healed for 3 to 36 months were treated with teriparatide 20 μg/day. Accelerated healing of fracture nonunion was confirmed in 5 of 6 patients with time to complete union of 3 to 9 months. The shortest time to recovery was observed in younger patients without comorbidities. Treatment was well tolerated.ConclusionTeriparatide is a promising treatment for nonunion fractures, but its response depends on associated comorbidities. The potential benefit of teriparatide as an adjunct to treat nonunion justifies randomized placebo-controlled trials to determine its efficacy and safety in broader populations. (Endocr Pract. 2015;21:136-142)     

Unexpected Clinical Course During Treatment of a TSH-Secreting Pituitary Adenoma

ObjectiveTo report the rare occurrence of a patient with thyrotropinoma that transitioned into a secretory thyro-somatotroph adenoma during medical treatment with somatostatin analogue.MethodsWe report the case of a patient with a thyrotroph pituitary adenoma who developed de novo evidence of growth hormone cosecretion following one year of successful medical treatment.ResultsA 78-year-old woman was diagnosed with a thyroid stimulating hormone (TSH) secreting pituitary macroadenoma (TSHoma) based on classical clinical and biochemical features. There was no clinical or biochemical evidence of growth hormone (GH) cosecretion. She declined surgical resection and was treated with primary medical therapy, octreotide long acting repeatable (LAR), to which she had an antitumor and antisecretory response; however, following 12 months of successful medical treatment she developed de novo hypersecretion of growth hormone despite involution of the tumor mass. TSH-secreting pituitary adenomas may rarely become plurihormonal during apparently successful medical treatment. This may represent an unusual form of secondary resistance to somatostatin analogue or the rarer phenomenon of tumor transformation into a secretory thyro-somatotroph adenoma.ConclusionThe unexpected clinical course of this case highlights the need for careful long-term surveillance in patients with TSH secreting pituitary adenomas. (Endocr. Pract. 2013;19:e88-e91)     

Pituitary Hormone Dysfunction After Proton Beam Radiation Therapy in Children with Brain Tumors

Objectiveo characterize endocrine dysfunction in pediatric patients with brain tumors who received proton beam (PB) radiation therapy and to compare those treated with PB radiotherapy only versus combined conventional and PB irradiation.MethodsA retrospective review of medical records of patients ≤ 18 years of age who received PB radiation therapy for a brain tumor between 2000 and 2008 was performed. Variables analyzed included patient demographics, tumor type, therapeutic modalities, radiation doses, and types and timing of endocrine dysfunction.ResultsThirty-eight patients were identified, of whom 31 (19 boys and 12 girls; mean age, 11.9 ± 3.3 years) had undergone endocrine evaluation. Of these patients, 19 received PB radiotherapy only and 12 received conventional plus PB irradiation. Before irradiation, a cranial surgical procedure was performed in 28 study subjects, and 22 received chemotherapy. The mean duration of follow-up after radiation therapy was 1.8 ± 0.8 years. Nine patients (47%) in the PB only group and 4 (33%) in the conventional plus PB group developed endocrine dysfunction (no significant difference) after cranial irradiation. Children with endocrine sequelae treated with PB irradiation alone received fewer cobalt gray equivalents than those treated with conventional plus PB irradiation (5,384 ± 268 versus 5,775 ± 226, respectively; P < .02), and pituitary hormone deficiencies were detected later during follow-up in those who received PB radiotherapy only versus conventional plus PB irradiation (1.17 ± 0.4 years versus 0.33 ± 0.11 year, respectively; P < .01).ConclusionA high rate of endocrine sequelae was seen in our study. Children with brain tumors treated with conventional plus PB irradiation developed endocrine dysfunction faster and received a higher radiation dose than those receiving PB radiotherapy only. Prior surgical treatment and chemotherapy were additional risk factors. Large prospective studies are needed to evaluate further the incidence of endocrine sequelae after PB irradiation in children. (Endocr Pract. 2011;17:891-896)     

A new inherited interstitial deletion of the distal long arm of chromosome 4

A 12-year-old boy showed mild dysmorphic features, late presentation of learning difficulties and behaviour problems, obesity, breast hypertrophy and bilateral slipped capital femoral epiphysis. His mother also has mild dysmorphic features, obesity, and a similar history of late presentation of learning difficulties and behaviour problems. Cytogenetic analysis demonstrated an inherited distal long arm deletion of one chromosome 4. The boy's karyotype was interpreted as 46,XY,del(4)(q32 q33)mat and the mother's karyotype as 46,XX,del(4)(q32 q33). This is the second report of an inherited distal 4q deletion and the first report of interstitial chromosome 4 deletion involving q32 q33 segments.