scholarly journals Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Nadan Gregoric ◽  
Urh Groselj ◽  
Natasa Bratina ◽  
Marusa Debeljak ◽  
Mojca Zerjav Tansek ◽  
...  
Keyword(s):  
Severe Obesity ◽  
Autosomal Recessive Disorder ◽  
Melanocortin Receptor ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Childhood And Adolescence ◽  
Central Hypothyroidism ◽  
Genetic Characteristics ◽  
Red Hair

Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin hypopigmentation, and red hair. It is caused by pathogenic variants in the POMC gene that codes the proopiomelanocortin polypeptide which is cleaved to several peptides; the most notable ones are adrenocorticotropic hormone (ACTH), alpha- and beta-melanocyte-stimulating hormones (α-MSH and β-MSH); the latter two are crucial in melanogenesis and the energy balance by regulating feeding behavior and energy homeostasis through melanocortin receptor 4 (MC4R). The lack of its regulation leads to polyphagia and early onset severe obesity. A novel MC4R agonist, setmelanotide, has shown promising results regarding weight loss in patients with POMC deficiency. A systematic review on previously published clinical and genetic characteristics of patients with POMC deficiency and additional data obtained from two unrelated patients in our care was performed. A 25-year-old male patient, partly previously reported, was remarkable for childhood developed type 1 diabetes (T1D), transient growth hormone deficiency, and delayed puberty. The second case is a girl with an unusual presentation with central hypothyroidism and normal pigmentation of skin and hair. Of all evaluated cases, only 50% of patients had characteristic red hair, fair skin, and eye phenotype. Central hypothyroidism was reported in 36% of patients; furthermore, scarce adolescent data indicate possible growth axis dysbalance and central hypogonadism. T1D was unexpectedly prevalent in POMC deficiency, reported in 14% of patients, which could be an underestimation. POMC deficiency reveals to be a syndrome with several endocrinological abnormalities, some of which may become apparent with time. Apart from timely diagnosis, careful clinical follow-up of patients through childhood and adolescence for possible additional disease manifestations is warranted.

Turner syndrome in Albania and the efficacy of its treatment with growth hormone

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Petrit Hoxha ◽  
Anila Babameto-Laku ◽  
Gentian Vyshka ◽  
Klodiana Gjoka ◽  
Dorina Minxuri ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Turner Syndrome ◽  
Body Height ◽  
Delayed Puberty ◽  
Genetic Characteristics ◽  
Female Patients ◽  
Albanian Population ◽  
The Moment

AbstractThe aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5–23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

2020 ◽  
Vol 33 (8) ◽  
pp. 1051-1056 ◽  
Author(s):  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Packiamary Jerome ◽  
Vettriselvi Venkatesan ◽  
Teena Koshy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Genetic Characteristics ◽  
Delay In Diagnosis ◽  
Genital Ambiguity ◽  
Uncommon Condition ◽  
Rule Out

AbstractObjectivesCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, that could rarely be due to 17 α-hydroxylase deficiency (17αOHD) and/or 17,20 lyase deficiency. Mutation of CYP17A1 gene causes deficiency of glucocorticoids and androgens but excess of mineralocorticoids. Lack of genital ambiguity in most children causes a delay in diagnosis even until puberty. Classical presentation with hypertension and hypokalemia is often not encountered. We intended to study the clinical, biochemical and genetic characteristics of children diagnosed with CAH due to 17αOHD.MethodsThree children who were diagnosed with CAH due to 17αOHD in our institute and on follow up were included in this retrospective study. Clinical, biochemical and genetic characteristics of these children were retrieved and studied from electronic medical records.ResultsTwo children were genetic females and one was genetic male, but all three were raised as females. All had hypertension at diagnosis except one but none had hypokalemia. All of them had mutation in the CYP17A1 gene. The two females responded well to oestrogen and progesterone and had adequate estrogenization clinically.ConclusionsEven though CAH due to 17αOHD is quite rare, it should be considered while evaluating young individuals with hypogonadism, hypertension with or without hypokalemia. Lack of genital ambiguity and absence of classical signs at presentation does not rule out this not so uncommon condition and warrants follow up.

A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Mehmet Nuri Özbek ◽  
Meliha Demiral ◽  
Edip Unal ◽  
Nezahat Doğan Karaşin ◽  
Rıza Taner Baran ◽  
...  
Keyword(s):  
Transmembrane Protein ◽  
Case Series ◽  
Autosomal Recessive Disorder ◽  
Melanocortin Receptor ◽  
Delay In Diagnosis ◽  
Neurodevelopmental Delay ◽  
Long Term Follow Up ◽  
Glucocorticoid Deficiency ◽  
Low Cortisol

Abstract Objectives Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP) is a transmembrane protein involved in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. In the present case series, we evaluate the clinical characteristics and long-term follow-up of six cases with FGD due to mutations in MC2R and MRAP. Case presentation Data of six cases with FGD (five with mutations in MC2R and one with a mutation in MRAP) who were being followed at our paediatric endocrine centre was evaluated. Diagnosis of FGD was considered in case of elevated ACTH and inappropriately low cortisol level, and exclusion of other aetiologies. The main presenting complaints were hyperpigmentation and hypoglycaemic convulsion in all cases. During a follow-up period of 26–115 months, one patient with homozygous 560delT mutation in MC2R, one female with G226R mutation in MC2R and one female with IVS3ds+1delG mutation in MRAP had a neurodevelopmental delay (NDD), while the other three patients had normal neurodevelopment. Conclusions FGD patients due to MC2R and MRAP mutations with early diagnosis and compliance to the hydrocortisone therapy had normal neurodevelopment, while delay in diagnosis and poor compliance was associated with severe hypoglycaemic convulsions and subsequent complications NDD.

STRUCTURAL AND DYNAMIC FEATURES OF EAR-LY DISABILITY DUE TO MENTAL DISEASES

2020 ◽  
pp. 62-67
Author(s):  
Shmakova O.P.
Keyword(s):  
People With Disabilities ◽  
Child And Adolescent Psychiatry ◽  
Child Psychiatrist ◽  
Childhood And Adolescence ◽  
Disabled Children ◽  
Dynamic Features ◽  
Factors Affecting ◽  
Number Of Children ◽  
Number Of Patients

Prevention of disability is one of the most significant tasks of child and adolescent psychiatry. Obtaining data on the dynamics of the number of people with disabilities and the factors affecting this indicator seems to be one of the relevant aspects. Aim: to trace the dynamics of the number of children with disabili-ties and to assess the change in the structure of early disability over the past decades. Materials and Meth-ods. A comparative analysis of two cohorts of patients was carried out: 1st - patients born in 1990-1992. (1203 patients (men - 914, 76%; women - 289, 24%)) who applied to the district neuropsychiatric dispensa-ry for outpatient care in childhood and adolescence; II - children and adolescents born in 2005 - 2018 (602 patients (male - 410, 68%; female - 192, 32%), ob-served at the time of the study by a child psychiatrist in the neuropsychiatric dispensary. Research methods: clinical and psychopathological; follow-up; statisti-cal. Results. Comparison of the number and nosologi-cal distribution of disabled children in two cohorts showed that over the 15th year there has been a shift towards an increase in the proportion of disabled children among patients observed by child and ado-lescent psychiatrists. The increase in the number of children with disabilities was due to those suffering from childhood autism and other disorders of general development. There were no statistically significant differences in the number of people with disabilities who received benefits before the age of 7, as well as differences in gender ratios among disabled people in the two cohorts. Conclusion. Early disability is a mul-tifactorial phenomenon, prevalence, dynamics, the structure of which depends not only on clinical, but also on socio-administrative realities. Children with autism require increased attention, since there has been a multiple increase in the number of patients with this diagnosis.

Biomarkers of Acromegaly and Growth Hormone Action

2020 ◽  
Vol 27 (12) ◽  
pp. 1231-1245
Author(s):  
Filippo Maffezzoni ◽  
Teresa Porcelli ◽  
Andrea Delbarba ◽  
Letizia Pezzaioli ◽  
Carlo Cappelli ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Biological Markers ◽  
Clinical Care ◽  
Hormone Deficiency ◽  
Surrogate Outcomes ◽  
Current State ◽  
Growth Hormone Action ◽  
Igf I ◽  
Definition Of

: Biological markers (biomarkers) play a key role in drug development, regulatory approval and clinical care of patients and are linked to clinical and surrogate outcomes. : Both acromegaly and Growth Hormone Deficiency (GHD) are pathological conditions related to important comorbidities that, in addition to having stringent diagnostic criteria, require valid markers for the definition of treatment, treatment monitoring and follow-up. GH and insulin-like growth factor-I (IGF-I) are the main biomarkers of GH action in children and adults while, in acromegaly, both GH and IGF-I are established biomarkers of disease activity. : However, although GH and IGF-I are widely validated biomarkers of GHD and acromegaly, their role is not completely exhaustive or suitable for clinical classification and follow-up. Therefore, new biological markers for acromegaly and GH replacement therapy are strongly needed. : The aim of this paper is to review and summarize the current state in the field pointing out new potential biomarkers for acromegaly and GH use/abuse.

scholarly journals Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances

2014 ◽  
Vol 35 (3) ◽  
pp. 376-432 ◽  
Author(s):  
Kyriaki S. Alatzoglou ◽  
Emma Alice Webb ◽  
Paul Le Tissier ◽  
Mehul T Dattani
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Childhood And Adolescence ◽  
Isolated Growth Hormone Deficiency ◽  
Recent Advances

OP270 Why The Haute Autorité de Santé Rejects the Widespread Use Of “Mini-Bypass”/One Anastomosis Gastric Bypass For Obesity In France

2020 ◽  
Vol 36 (S1) ◽  
pp. 4-4
Author(s):  
Jean-Charles Lafarge ◽  
Denis-Jean David ◽  
Cédric Carbonneil
Keyword(s):  
Esophageal Cancer ◽  
Gastric Bypass ◽  
Adverse Events ◽  
Severe Obesity ◽  
One Anastomosis Gastric Bypass ◽  
Close Monitoring ◽  
Efficacy And Safety ◽  
Multicenter Rct ◽  
Nutritional Complications

IntroductionOne anastomosis gastric bypass (OAGB) has become a widespread technique over the last few years in France, without any prior assessment and despite existing controversies among bariatric surgeons. An older bypass technique for treating obesity, the Roux-en-Y gastric bypass (RYGB), is available and reimbursed, having been assessed and approved for use in 2005. In 2019, the French Haute Autorité de Santé (HAS) assessed OAGB for the treatment of severe and massive obesity. This assessment, the first in the world, was undertaken for OAGBs carried out with a 200- or 150-centimeter biliopancreatic-limb (BP-limb) length.MethodsA systematic review (SR) of the literature and consultation of a working group consisting of both healthcare professionals (clinician and surgeons) and patients were carried out. The primary aim of our assessment was to determine whether the OAGB technique can replace RYGB. The efficacy and safety profile of OAGB was compared with RYGB in adult patients with massive, severe obesity. Complications and postoperative follow up specific to OAGB were identified.ResultsThe three selected randomized controlled trials (RCTs) could not confirm the superiority or the non-inferiority of OAGB, compared with RYGB, on the selected efficacy endpoints of weight loss, resolution of comorbidities, and quality of life. Adverse events reported for OAGB included severe nutritional complications and bile reflux that could potentially lead to lower esophageal cancer. In one RCT, the frequency of serious adverse events in the OAGB group was almost two times higher than in the RYGB group.ConclusionsHAS considered that OAGB carried out with a longer (200 centimeter) BP-limb is not a validated technique for the surgical treatment of massive, severe obesity. Thus, it cannot be considered an alternative to RYGB. There were insufficient data available on OAGB performed with a 150-centimeter BP-limb. Thus, HAS recommended undertaking a multicenter RCT to assess the efficacy and safety of OAGB. Patients who have already undergone OAGB should receive the same follow up as patients who have received RYGB, including close monitoring for nutritional complications and lower esophageal cancer and an endoscopic examination five years after surgery.

scholarly journals Evaluation of the Anxiety Level of Mothers of Children with Epilepsy during the COVID-19 Pandemic Period

2021 ◽  
pp. 1-8
Author(s):  
Halil Celik ◽  
Sadettin Burak Acikel ◽  
Fatih Mehmet Akif Ozdemir ◽  
Erhan Aksoy ◽  
Ulkuhan Oztoprak ◽  
...  
Keyword(s):  
Neurological Disease ◽  
Chronic Conditions ◽  
Care Center ◽  
Tertiary Care ◽  
Anxiety Level ◽  
Childhood And Adolescence ◽  
Routine Examination ◽  
Significant Difference ◽  
Anxiety Levels

<b><i>Background and Aim:</i></b> Although anyone can be affected by the COVID-19 pandemic, it may cause additional concern for people with chronic conditions. Epilepsy is the most common neurological disease in childhood and adolescence. The aim of this study was to determine anxiety levels among the mothers of children under follow-up for epilepsy in our clinic during the COVID-19 pandemic. <b><i>Methods:</i></b> The study group consisted of the mothers of epilepsy patients who were under follow-up in the pediatric neurology outpatient clinic of the tertiary care center and were scheduled for a routine examination during the COVID-19 pandemic. The mothers’ anxiety levels according to the Beck Anxiety Inventory and their opinions about COVID-19 in relation to their child were assessed and compared based on whether the mother/patient attended their appointments in person and whether the child had frequent or infrequent seizures. <b><i>Results:</i></b> There was no statistically significant difference in anxiety level between the mothers of 64 children with epilepsy who attended their appointment during the pandemic and those of the mothers of 52 who did not attend their appointment. However, the mothers of children with frequent seizures had significantly higher anxiety levels. <b><i>Conclusion:</i></b> Anxiety level of mothers whose children have frequent seizures was significantly higher compared to mothers whose children have infrequent seizures. It is important to be aware about this point and using telemedicine approach in suitable population and postpone routine outpatient follow-up appointments as much as possible.

scholarly journals Is One Anastomosis Gastric Bypass with a Biliopancreatic Limb of 150 cm Effective in the Treatment of People with Severe Obesity with BMI > 50?

2021 ◽  
Author(s):  
Arnaud Liagre ◽  
Francesco Martini ◽  
Radwan Kassir ◽  
Gildas Juglard ◽  
Celine Hamid ◽  
...  
Keyword(s):  
Bariatric Surgery ◽  
Weight Loss ◽  
Gastric Bypass ◽  
Severe Obesity ◽  
Postoperative Mortality ◽  
One Anastomosis Gastric Bypass ◽  
Sustained Weight Loss ◽  
Biliopancreatic Limb ◽  
Percentage Excess Weight Loss

Abstract Purpose The treatment of people with severe obesity and BMI > 50 kg/m2 is challenging. The present study aims to evaluate the short and mid-term outcomes of one anastomosis gastric bypass (OAGB) with a biliopancreatic limb of 150 cm as a primary bariatric procedure to treat those people in a referral center for bariatric surgery. Material and Methods Data of patients who underwent OAGB for severe obesity with BMI > 50 kg/m2 between 2010 and 2017 were collected prospectively and analyzed retrospectively. Follow-up comprised clinical and biochemical assessment at 1, 3, 6, 12, 18, and 24 months postoperatively, and once a year thereafter. Results Overall, 245 patients underwent OAGB. Postoperative mortality was null, and early morbidity was observed in 14 (5.7%) patients. At 24 months, the percentage total weight loss (%TWL) was 43.2 ± 9, and percentage excess weight loss (%EWL) was 80 ± 15.7 (184 patients). At 60 months, %TWL was 41.9 ± 10.2, and %EWL was 78.1 ± 18.3 (79 patients). Conversion to Roux-en-Y gastric bypass was needed in three (1.2%) patients for reflux resistant to medical treatment. Six patients (2.4%) had reoperation for an internal hernia during follow-up. Anastomotic ulcers occurred in three (1.2%) patients. Only two patients (0.8%) underwent a second bariatric surgery for insufficient weight loss. Conclusion OAGB with a biliopancreatic limb of 150 cm is feasible and associated with sustained weight loss in the treatment of severe obesity with BMI > 50 kg/m2. Further randomized studies are needed to compare OAGB with other bariatric procedures in this setting. Graphical abstract

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