Publications by authors named "Olga Karapanou"

19 Publications

  • Page 1 of 1

Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty.

Endocrine 2021 May 4. Epub 2021 May 4.

Pediatric Endocrinology Unit, Third Department of Pediatrics, "Attikon" University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Purpose: Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty METHODS: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene.

Results: There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017.

Conclusion: XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-021-02695-0DOI Listing
May 2021

Histology is more ιmportant than persistent anti-Tg antibodies for progression of differentiated thyroid cancer.

Clin Endocrinol (Oxf) 2021 Jul 21;95(1):217-223. Epub 2021 Mar 21.

Department of Endocrinology Diabetes and Metabolism, Evangelismos Hospital, Athens, Greece.

Context: Anti-thyroglobulin antibodies (anti-Tg), present in 20%-25% of differentiated thyroid cancer (DTC) patients, interfere with thyroglobulin measurements posing a challenge in the follow-up.

Objectives: The aim of this study was to identify clinical-histological factors that may affect anti-Tg persistence and disease outcome in DTC with positive anti-Tg.

Methods: We retrospectively studied 234 DTC patients, with positive anti-Tg at diagnosis (females: 82.1%, age at diagnosis: 46.0 ± 14.4 yrs, median follow-up: 5 yrs (1.5-32 yrs). 221/234 (94.4%) received radioiodine (RAI) ablation. Patients were divided into two subgroups: those whose anti-Tg became undetectable (anti-Tg-NEG) and those whose anti-Tg remained positive (anti-Tg-POS) at the end of the follow-up period.

Results: Anti-Tg-POS patients (n = 80, 34.2%) compared to anti-Tg-NEG (n = 154, 65.8%) had more frequently lymph node infiltration (36.3% vs 20.1%, P = .01), extrathyroidal extension (ETE, 35.0% vs 22.1%, P = .04), poorly differentiated DTC and increased tumour size (P ≤ .004). They received higher total RAI dose (P < .001). In most cases, additional RAI administration and/or additional surgeries did not lead to anti-Tg elimination. These had more frequently structural disease persistence/progression compared to anti-Tg-NEG (remission: 78.8% vs 95.5%, persistence: 13.8% vs 3.9%, progression: 7.5% vs 0.6%, P < .001). In Kaplan-Meier analysis, the probability of disease progression was higher in anti-Tg-POS. In Cox proportional hazard analysis, the predictors of disease progression were size (P = .002) and ETE (P = .006).

Conclusions: Worse histological features are more frequent in patients with anti-Tg persistence during follow-up. Further additional RAI administration and/or surgeries do not affect anti-Tg elimination in most cases. Anti-Tg persistence correlates with structural persistence although tumour size and extrathyroidal extension are the main predictors of disease progression.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.14456DOI Listing
July 2021

Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers.

Front Endocrinol (Lausanne) 2020 7;11:589340. Epub 2021 Jan 7.

Department of Endocrine and Metabolic Diseases, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, Milan, Italy.

Several low penetration susceptibility risk loci or genes have been proposed in recent years with a possible causative role for familial non-medullary thyroid cancer (FNMTC), though the results are still not conclusive or reliable. Among all the candidates, here fully reviewed, a new extremely rare germline variant c.3607A>G (p.Y1203H) of the gene, has been recently reported to co-segregate with the affected members of one non-syndromic FNMTC family. We aimed to validate this finding in our series of 33 unrelated FNMTC Italian families, previously found to be negative for two susceptibility germline variants in the and genes. Unfortunately, the p.Y1203H variant was not found in either the 74 affected or the 12 not affected family members of our series. We obtained interesting data by comparing the clinico-pathological data of the affected members of our kindreds with a large consecutive series of sporadic cases, followed at our site. We found that familial tumors had a statistically significant more aggressive presentation at diagnosis, though not resulting in a worst outcome. In conclusion, we report genetic and clinical data in a large series of FNMTC kindreds. Our families are negative for variants reported as likely causative, namely those lying in the , and genes. The extensive review of the current knowledge on the genetic risk factors for non-syndromic FNMTCs underlies how the management of these tumors remains mainly clinical. Despite the more aggressive presentation of familial cases, an appropriate treatment leads to an outcome similar to that observed for sporadic cases.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2020.589340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7817808PMC
June 2021

The role of molecular genetics in the presurgical management of thyroid nodules.

Authors:
Olga Karapanou

Minerva Endocrinol (Torino) 2021 03 12;46(1):21-34. Epub 2020 Oct 12.

401Hellenic Army General Military Hospital of Athens, Athens, Greece -

Introduction: Fine-needle aspiration (FNA) is an important diagnostic tool for the evaluation of thyroid nodules. However, in almost ¼ of all nodules submitted to FNA cytology is indeterminate. Since the majority of genetic alterations in thyroid cancer have been identified, the use of molecular testing platforms has been endorsed by American Thyroid Association for management of indeterminate nodules.

Evidence Acquisition: Several commercial tests were based on mRNA expression of FNA samples (Afirma®, Veracyte, South San Francisco, CA, USA) while others detect DNA alterations (ThyroSeq, UPMC, Pittsburgh, PA, USA). Noncommercial tests detect limited number of point mutations or re-arrangements (gene panels). Literature study included a Pubmed research for adult original studies from 2003 to 2020, focusing on terms such as "molecular tests," "nodules with indeterminate AUS/FLUS and FN/SFN cytology."

Evidence Synthesis: Gene expression profile tests serve as "rule out" tests due to their high negative predictive value and perform better in a setting of low cancer pretest probability. Genetic alteration platforms display high positive predictive value and serve as rather "rule in" tests but their diagnostic accuracy is hampered either because a small proportion of nodules does not harbor any of these alterations targeted (gene panels) or because commonly identified RAS mutations can also be found in benign nodules.

Conclusions: Next generation sequencing development and incorporation of other genetic markers such as miRNA can improve diagnostic accuracy of molecular tests.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0391-1977.20.03274-5DOI Listing
March 2021

Long-term outcome of differentiated thyroid cancer in children and young adults: risk stratification by ATA criteria and assessment of pre-ablation stimulated thyroglobulin as predictors of disease persistence.

Endocrine 2020 12 13;70(3):566-574. Epub 2020 Jun 13.

Department of Endocrinology, Diabetes and Metabolism, Evangelismos Hospital, 10676, Athens, Greece.

Purpose: Differentiated thyroid cancer (DTC) has an increasing incidence in childhood and adolescence but long-term outcome data are limited. We aimed to identify possible risk factors associated with disease persistence, with special focus on the usefulness of ATA risk stratification system and pre-ablation stimulated thyroglobulin (Tg) levels.

Methods: We retrospectively studied 103 patients, 79 females (76.7%), aged 15.6 ± 3.2 years (range 5-21 years) who underwent total thyroidectomy for DTC. Patients were classified by ATA risk stratification criteria as low, intermediate, and high risk for recurrence. All, except five with papillary microcarcinoma, received radioactive iodine (RAI) treatment.

Results: At diagnosis, 44.7% of patients had cervical lymph node and 7.8% pulmonary metastases. Amongst the 72 patients with long-term follow-up data, 31.9% had persistent disease. Lymph node as well as pulmonary metastases and increased pre-ablation stimulated thyroglobulin (Tg) levels were associated with persistent disease. The risk of persistent disease was significantly higher in both the intermediate- (OR 17.95; 95% CI 2.66-120.94, p < 0.01) and high-risk (OR 17.65; 95% CI 4.47-69.74, p < 0.001) groups. ROC curve analysis showed that a pre-ablation Tg level higher than 14 ng/ml had a sensitivity of 94.7% to predict persistence, corresponding to a positive (PPV) and negative predictive values (NPV) of 66.7% and 93.8%, respectively.

Conclusions: ATA risk stratification was validated in our population of children and young adults with DTC. Moreover, pre-ablation stimulated Tg levels of <14 ng/ml were associated with a low risk of long-term persistence and may therefore serve as a marker to identify patients who may need less intensive surveillance.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-020-02378-2DOI Listing
December 2020

Medical therapy for non-functioning pituitary tumors-a critical approach.

Hormones (Athens) 2019 Jun 27;18(2):117-126. Epub 2018 Oct 27.

Department of Endocrinology, Diabetes and Metabolism, Evangelismos Hospital, Athens, Greece.

Non-functioning pituitary adenomas (NFPAs) are the second most common variant of pituitary tumors. When symptomatic, primary therapy is surgery. Recurrence rates are high. Since many NFPAs express dopamine and somatostatin receptors, medical therapy has been used after surgery in order to prevent recurrence. So far, dopamine agonists have been more widely tested with some promise when introduced immediately after surgery but with less efficacy when introduced later upon tumor regrowth. Currently, the role of medical therapy to prevent tumor regrowth in NFPAs is limited by imprecisions as to final outcome and uncertainties concerning on patient selection, dosing, duration, and side effects.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s42000-018-0070-0DOI Listing
June 2019

Differentiated thyroid cancer in childhood: a literature update.

Hormones (Athens) 2017 Oct;16(4):381-387

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, "Aghia Sophia" Children's Hospital, Athens, Greece.

Differentiated thyroid cancer in childhood is rare. Apart from family history, radiation exposure is a major risk factor. Although its clinical course is quite aggressive with higher rates of lymph node and pulmonary metastases as compared to adults, the final outcome tends to be favorable with mortality rates less than 2%. We herein review the clinical picture, genetic background response to treatment and recurrence rates of differentiated thyroid cancer in children and young adolescents are thoroughly reviewed and the main differences with adult differentiated thyroid cancer are highlighted.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14310/horm.2002.1758DOI Listing
October 2017

Early Adiposity Rebound and Premature Adrenarche.

J Pediatr 2017 07 28;186:72-77. Epub 2017 Apr 28.

Third Department of Pediatrics, National and Kapodistrian University of Athens School of Medicine, "Attikon" University Hospital, Athens, Greece. Electronic address:

Objectives: To examine differences in the growth pattern and the age at adiposity rebound (AR) between children with premature adrenarche (PA) and their healthy peers (controls).

Study Design: In this cross-sectional study of 82 prepubertal children with PA and 63 controls, the main outcome measures were height and body mass index SDS progression, from birth to presentation at the clinic, baseline biochemical and hormonal evaluation, bone age determination, and age at AR.

Results: Children with PA were significantly taller and more adipose than controls from the first years of life. 33% of children with PA presented the growth pattern of constitutional advancement of growth (ie, early growth acceleration) vs 19% of controls (P = .045). Children with PA had an earlier AR compared with controls; mean age at AR in girls with PA was 3.73 (1.03) years vs 4.93 (1.36) years for control girls (P = .001) and in boys with PA was 3.45 (0.73) vs 5.10 (1.50) years in control boys (P = .048). Both obese and nonobese girls with PA were taller and had earlier age at AR compared with nonobese controls.

Conclusions: Early AR and constitutional advancement of growth may be triggering factors for adrenal androgen production and PA.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.03.058DOI Listing
July 2017

Therapeutic trends and outcome of acromegaly: a single center experience over a 40-year period.

Hormones (Athens) 2016 Jul;15(3):368-376

Department of Endocrinology Diabetes and Metabolism, "Evaggelismos" Hospital, Athens, Greece.

Objective: To evaluate the therapeutic trends and long-term outcome of treatment modalities for acromegaly in our center over a 40-year period.

Design: We retrospectively studied 321 acromegalic patients (145 males/176 females) diagnosed and treated from the 1970s until September 2013. Patients were divided into two subgroups: group A consisted of 166 patients diagnosed before 1990 and group B of 155 patients diagnosed after 1990. Outcome was assessed with GH (random and/or post OGTT) and IGF1 measurements.

Results: More group A than group B patients were submitted to radiotherapy (57.8% vs 16.8% patients, respectively, p <0.001). In contrast, more patients of group B were offered surgery (70.3% vs 42.1% in group A, p <0.001) and/or medical treatment (70.3% vs 23.4% in group A, p <0.001). At latest follow-up, 68.4 % of patients in group B achieved GH <2.5 μg/l after treatment vs 39.8% in group A, p=0.001, 46.9% of patients in group B achieved GH <1 μg/l vs 20.3% in group A, p=0.001 and 47.1% of patients in group B achieved during OGTT GH nadir <0.4 μg/l vs 18.6% in group A, p=0.001.

Conclusions: Transsphenoidal resection and medical treatment resulted in improved outcome in acromegalic patients treated over the last 20 years. However, the disease still remains uncontrolled in a considerable number of patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14310/horm.2002.1680DOI Listing
July 2016

A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.

Endocrinol Diabetes Metab Case Rep 2015 7;2015:150074. Epub 2015 Aug 7.

Third Department of Pediatrics , Attikon University Hospital , Rimini 1 Haidari, Athens, 12462 , Greece.

Unlabelled: 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5-8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showed elevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11β-OHD. DNA of the proband and her parents was isolated and genotyped for CYP11B1 gene coding cytochrome P450c11. The girl was found to be compound heterozygous for two CYP11B1 novel mutations, p.Ala386Glu (exon 7), inherited from the father and p.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years after presentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequate suppression of adrenal androgens.

Learning Points: 11β-hydroxylase (CYP11B1) deficiency (11OHD; OMIM +202010) is the second most common cause of CAH accounting for approximately 5-8% of cases with an incidence of 1:100 000-1:200 000 live births in non-consanguineous populations.Two CYP11B1 inactivating novel mutations, p.Ala386Glu and p.Leu471Arg are reportedRegarding newborn females, in utero androgen excess results in ambiguous genitalia, whereas in the male newborn diagnosis may go undetected. In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls.Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients.Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione.The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1530/EDM-15-0074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626658PMC
November 2015

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Hormones (Athens) 2014 Jan-Mar;13(1):146-52

Department of Endocrinology Diabetes and Metabolism, "Evangelismos" Hospital, Athens, Greece.

We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5 years, developed progressive neurological symptoms at the age of 29. Diagnosis of X-ALD was established by elevated serum very long chain fatty acids (VLCFAs) and genetic testing. His sexual body hair was sparse. Hormonal investigations revealed normal testosterone and inappropriately elevated LH levels. Androgen receptor gene analysis was negative for mutations or polymorphic variants associated with decreased receptor activity. Signs of hypogonadism in patients with confirmed X-ALD are not exclusively due to primary testicular failure. Tissue specific androgen resistance represents an alternative possibility. Since no loss-of-function mutations were detected in the androgen receptor, it is speculated that the patient's androgen resistance could be part of a functional defect mediated through VLCFA accumulation at the testosterone receptor and/or post-receptor levels.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/BF03401330DOI Listing
December 2014

Adrenocorticotropic hormone independent macronodular adrenal hyperplasia due to aberrant receptor expression: is medical treatment always an option?

Endocr Pract 2013 May-Jun;19(3):e77-82

Department of Endocrinology, Diabetes and Metabolism, Evangelismos Hospital, Athens, Greece.

Objective: To investigate the efficacy of medical treatment as an alternative option to bilateral adrenalectomy in patients with cortisol excess due to adrenocorticotropic hormone (ACTH) independent macronodular adrenal hyperplasia (AIMAH).

Methods: We focused on the efficacy of somatostatin analogues in a patient with food-dependent AIMAH and of leuprolide acetate in a patient with AIMAH due to aberrant LH/hCG receptor expression.

Results: Two female patients with bilateral macronodular adrenal hyperplasia and cortisol excess were evaluated for the presence of aberrant cortisol responses. One patient demonstrated an aberrant response to mixed meal and the other, a menopausal female, to luteinizing hormone-releasing hormone (LHRH) and human chorionic gonadotropin (hCG) administration. In the first patient, subcutaneous octreotide was administered prior to mixed meal and completely abolished food-induced cortisol secretion. Thus, the patient was treated with the long-acting somatostatin analogue octreotide long-acting release (LAR) for 3 months. There was no control of cortisol excess upon reevaluation and acute subcutaneous octreotide administration prior to meal was no longer effective in blocking food-induced cortisol secretion. The second patient successfully responded to leuprolide acetate and, for 40 months, her cortisol excess remains in long-term control.

Conclusions: A luteinizing hormone/human chorionic gonadotropin (LH/hCG) responsive patient with AIMAH sustained long-term control of cortisol excess on leuprolide acetate. In contrast, in a meal-responsive patient with apparent gastric inhibitory polypeptide (GIP) dependent AIMAH, did not achieve remission under somatostatin analogues.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4158/EP12346.CRDOI Listing
February 2014

Gonadotroph pituitary macroadenoma inducing ovarian hyperstimulation syndrome: successful response to octreotide therapy.

Hormones (Athens) 2012 Apr-Jun;11(2):199-202

Department of Endocrinology, Diabetes and Metabolism, Evangelismos Hospital, Athens, Greece.

We report a young woman with spontaneous ovarian hyperstimulation syndrome (OHSS), headaches, visual field defect and pituitary macroadenoma. She underwent transsphenoidal surgery with remission of OHSS. Immunohistochemical staining was positive for β-FSH and β-LH. Recurrence occurred after four years. The patient was treated with octreotide administration and conventional radiation therapy. Octreotide was effective in normalizing estradiol levels and resolving OHSS. This is a rare description of octreotide administration as an effective treatment modality of OHSS caused by gonadotropin-secreting pituitary adenomas.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14310/horm.2002.1347DOI Listing
June 2013

Health status of Greek thyroid cancer patients after radioiodine administration compared to a demographically matched general population sample.

Hell J Nucl Med 2012 May-Aug;15(2):98-102. Epub 2012 Jun 27.

Department of Endocrinology and Metabolism, Evangelismos Hospital, Athens, Greece.

The impact of radioiodine-131 ((131)I) treatment on thyroid cancer patients' quality of life is controversial. We conducted a cross-sectional study of 60 patients aged 18-73 years old who had recently underwent near total thyroidectomy due to papillary thyroid cancer and were scheduled for (131)I treatment. On admission to our department, prior to (131)I administration patients underwent clinical and laboratory investigation including routine clinical biochemistry, thyroid stimulating hormone (TSH) and thyroglobulin (Tg) measurements. Health-related quality of life (HRQoL) was estimated by the SF-36 Health Survey a generic instrument which consisted from eight scales (four for physical and four for mental health). After (131)I administration patients were discharged and approximately 6 months later they were re-evaluated. Our results showed that HRQoL in thyroid cancer patients receiving (131)I treatment is independent of age/gender and thyroid cancer-related variables. All SF-36 scales significantly improved six months after administration (P<0.05). Compared to Greek general population, before (131)I administration all scales were significantly lower (P<0.05). Six months post (131)I administration, scales were significantly lower for physical functioning (P=0.02), physical role (P=0.01), social functioning (P=0.03) and emotional role limitations (P=0.04), whereas the remaining SF-36 scales were comparable to the general population. In conclusion, hypothyroidism and anxiety for the outcome of their disease before (131)I treatment exert a negative impact on thyroid cancer patients. Quality of life improvement post (131)I is mainly attributed to the resumption of euthyroidism and familiarization with treatment and followup procedures rather than (131)I treatment itself. There was no significant difference between patients receiving lower (2220-3700MBq) and higher (3700-7400MBq) dosage.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1967/s002449910028DOI Listing
February 2013

Thyroid hormone transporters in the human.

Hormones (Athens) 2011 Oct-Dec;10(4):270-9

Third Department of Pediatrics, University of Athens School of Medicine, Attikon University Hospital, Athens, Greece.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14310/horm.2002.1318DOI Listing
May 2012

Characteristics of the short children referred to an academic paediatric endocrine clinic in Greece.

J Paediatr Child Health 2012 Mar 23;48(3):263-7. Epub 2011 Nov 23.

Third Department of Paediatrics, University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.

Aim: To describe the characteristics of short children in relation to gender and the various diagnoses.

Methods: All new patients of Greek origin that were referred to our institution in the years 2007 and 2008 for evaluation of short stature were included in the study. Children were categorized according to the severity of their short stature in those with height standard deviation score (HSDS) ≤ -3 and HSDS > -3.

Results: Two hundred ninety-five children (162 boys and 133 girls, ratio 1.2) were referred. HSDS of boys was -2.3 (0.6) and of girls -2.1 (0.5), P= 0.004. Girls had shorter parents, and the predicted adult HSDS was also shorter for girls -1.7 (0.8) than for boys -1.35 (0.76), P= 0.003. Seventy per cent of the children of both sexes had familial short stature (FSS), constitutional delay of growth or a combination of the two conditions. About 10% presented the auxological and biochemical criteria for growth hormone deficiency (GHD). In addition, 11.8% had a HSDS ≤ -3, the most common diagnosis being GHD (36.1%); the less severely short children most commonly presented FSS (41.2%).

Conclusions: There is no gender bias in referrals for short stature in Greece. About 70% of children of both sexes presented FSS or constitutional delay of growth or a combination of the two conditions, whereas GHD was diagnosed in about 10% of the children. Normal variants of growth were present in about 80% of children with HSDS > -3, but in only 40% when HSDS was ≤ -3.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1754.2011.02256.xDOI Listing
March 2012

VPA-induced recurrent pancreatitis in a cystic fibrosis carrier.

Eur J Paediatr Neurol 2011 Sep 20;15(5):453-5. Epub 2011 Jul 20.

Attiko University Hospital, University of Athens, 3rd Dept of Pediatrics, Haidari, Greece.

A 4.5 years old male with myoclonic epilepsy on Valproic acid (VPA) monotherapy, developed an acute pancreatitis. The discontinuation of VPA and substitution with Levetiracetam was followed by clinical improvement but a relapse of the pancreatitis was noted one month later. The investigation excluded a structural abnormality but revealed a heterozygous CTFR mutation. The contribution of the CTFR mutation on this VPA-induced recurrent pancreatitis cannot be ignored.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2011.04.004DOI Listing
September 2011

Determinants of menarche.

Reprod Biol Endocrinol 2010 Sep 30;8:115. Epub 2010 Sep 30.

Third Department of Pediatrics, University of Athens School of Medicine, Attikon University Hospital, Haidari, Athens 12462, Greece.

Menarche is a milestone in a woman's life as it denotes the start of reproductive capacity. Aim of this report is to review the recent developments and the current knowledge in the neuroendocrinology of pubertal onset and the factors, genetic and environmental, that influence menarcheal age. We also review the implications of early or late menarcheal age on a young woman's life.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/1477-7827-8-115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958977PMC
September 2010

Congenital bilateral amazia associated with bilateral choanal atresia.

Am J Med Genet A 2009 Jul;149A(7):1529-31

Third Department of Pediatrics, University of Athens School of Medicine, Attikon University Hospital, Athens, Greece.

Congenital absence of breast development is a very rare abnormality. It may present as an isolated finding or it may be accompanied by other congenital anomalies. Here we report on a 13.5-year-old girl presented to our pediatric endocrinology clinic because of lack of breast development. She had pubarche since the age of 10 years and was regularly menstruating since the age of 12 years. The patient's medical history was positive for bilateral complete choanal atresia that was diagnosed and corrected soon after birth. Physical examination was unremarkable except for bilateral amazia, that is, absence of palpable breast tissue and hypoplastic areolae, whereas both nipples were formed. Renal ultrasonography and chest radiography were normal. The coexistence of congenital bilateral amazia and bilateral complete choanal atresia suggests that these rare disorders may be related etiologically. The patient is scheduled for breast augmentation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32935DOI Listing
July 2009