Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and aldosterone synthesis and excessive androgen production. Adult height is often compromised in affected patients. Intellectual capability remains intact in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, based on previous studies. 47,XXY (KS) is a sex chromosomal aneuploidy that manifests with hypergonadotropic hypogonadism, tall stature, and variable intellectual and behavioral dysfunction. This clinical report describes an infant with 21-hydroxylase deficiency congenital adrenal hyperplasia and 47,XXY. The results of his neurodevelopmental, endocrine, neurological, and physical therapy evaluations during his first 22 months are included and were normal. This is the first published case investigating the neurodevelopmental profile of a patient with the combination of these two genetic disorders.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB—golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.

A possible case of Gigantism and/or Acromegaly in a 15th-17th century woman from Đurine Ćelije, Serbia

Endocrine disorders during growth and development that occur due to the secretion of excessive growth hormones are very rare in archaeological and modern populations. The human skeletal remains analyzed in this paper belong to an unusually tall woman, approximately 35-40 years of age, buried at the Đurine ćelije site (15th-17th century) in Serbia, who may have suffered from overgrowth syndrome. Individuals with this condition have an unusually tall stature and accompanying pathological changes related to organ systems and joint diseases. The aim of this paper is to show how the aforementioneddisorder affected the health status of an individual (grave No. 7a) and the performance of daily activities, but also the attitude of the community towards deformities during life and after death. Differential diagnosis was performed since otherdiseases tend to lead to similar skeletal changes. During the analysis, changes in growth were noticed, and her stature was determined to be 186.42 cm. Compared to the documented stature of post-medieval population from this period, theskeletal remains show a significant deviation from the average, especially when it comes to female individuals. Other pathological changes observed in this woman are osteoarthritis, spondyloarthropathy, and periosteal new bone formation.

DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults

DNMT3A Overgrowth Syndrome (DOS, also known as Tatton-Brown Rahman Syndrome/TBRS) is one of several overgrowth syndromes with complex phenotypes caused by constitutional mutations in genes encoding epigenetic regulators. The clinical features of DOS are variable but include overgrowth (tall stature and/or obesity) and intellectual disability. DNMT3A is essential for de novo DNA methylation and plays an important role in hematopoiesis. Somatic mutations in DNMT3A are among the most common initiating mutations in normal karyotype acute myeloid leukemia (AML) patients and in elderly people with clonal hematopoiesis. The natural history of DOS has not been fully explored since the first description of this rare condition in 2014. Because of the association of somatic DNMT3A mutations and leukemia development, we assessed information from the ~200 known DOS patients world-wide and were able to document eight with hematologic malignancies. Based on this prevalence, we suggest DOS is a cancer predisposition syndrome, especially for hematologic malignancies. Using recommendations from an expert panel, we suggest DOS patients should be prospectively monitored for hematologic malignancies, which may allow for early intervention and permit its natural history to be better defined.

ROMANS, GAULS, AND GERMANS: METUS HOSTILIS AND ETHNOLOOKISM AS TRIGGERS

В статье исследуются те эмоциональные триггеры, которые на протяжении ряда веков оказывали психологическое воздействие на коллективное сознание римской этнокультурной и политической общности в процессе её противостояния варварству. В этом контексте автор обращается к такому феномену, как лукизм, под которым понимается дискриминация по внешности (применительно к варварам речь идёт о негативном лукизме). Основной материал статьи посвящён этнолукизму как повседневной дискриминационной практике римлян по отношению к северным варварам — галлам и германцам. Тот иррациональный страх, который римляне испытывали перед угрозой галльского или германского нашествия, в значительной степени был обусловлен негативным этнолукизмом. В данном случае роль эмоциональных триггеров играли характерные плащи и брюки, а также высокий рост, телесная мощь, голубые глаза и длинные светлые волосы северных варваров. Преодолевать панический страх по отношению к галлам и германцам римлянам помогал авторитет победоносных полководцев, таких как Гай Марий и Юлий Цезарь. Процесс варваризации римской армии в значительной степени способствовал краху римской государственности на Западе и образованию на месте Западной Римской империи варварских королевств. The article explores those emotional triggers that over the centuries have had a psychological impact on collective consciousness of the Roman ethnocultural and political community in the process of its opposition to barbarism. In this context, the author refers to such a phenomenon as lookism, which means discrimination in appearance (in relation to barbarians we are talking about negative lookism). The main material of the article is devoted to ethnolookism as a daily discrimanatory practice of the Romans towards the northern barbarians — the Gauls and the Germans. The irrational fear that the Romans experienced facing the threat of a Gallic or Germanic invasion was largely due to negative ethnolookism. In this case, the role of emotional triggers was played by characteristic raincoats and trousers, as well as the tall stature, bodily strength, blue eyes and long blond hair of the northern barbarians. The authority of victorious commanders such as Gaius Marius and Julius Caesar helped the Romans to overcome their panic fear of the Gauls and the Germans. The process of barbarization of the Roman army largely contributed to the collapse of the Roman state in the West and the formation of the barbarian kingdoms on the site of the Western Roman Empire.

Paediatric endocrinology

This chapter covers paediatric endocrinology. It starts with normal growth, then goes on to short stature, and constitutional delay of growth and puberty. Primary and secondary growth hormone deficiency are then explained, and treatment is outlined alongside GH resistance. It goes on to hypothyroidism, coeliac disease, skeletal dysplasias, and Turner syndrome. Small gestational age, and tall stature and rapid growth are all covered, alongside normal puberty, precocious puberty, and delayed or absent puberty. Normal sexual differentiation and disorders of sexual development and the assessment of ambiguous genitalia are included.

A Monumental Horse Burial in the Armenian Highlands

Here we report on the unprecedented discovery of the complete skeleton of a ritually interred adult stallion with a bronze ring in its mouth. The horse was buried in a unique 15-meters diameter monumental stone-built tomb excavated in the Aghavnatun necropolis located on the southern slopes of Mt. Aragats, in the northern fringes of the Ararat Depression, Republic of Armenia. The tumulus was roughly circular; the horse’s remains were found in situ, in an inner oval-shaped structure. Our methodological procedure included a detailed description of the burial, a taphonomic study of the bones, and meticulous morphometric observations and measurements, and thus we could provide a taxonomic defi nition and an age estimate. Direct radiometric dating of the horse’s skeleton provided a date of 2130±20 BP. The morphological characteristics of the horse, with its tall stature and slender feet, suggest that it was a large individual, similar to the extinct breed of Nisean horse previously known mainly from textual and iconographical sources. The metal ring found in the mouth of the horse suggests that it likely served as a breeding stallion. This discovery presents a unique combination of zooarchaeological evidence for the importance of the horse in the Parthian-Hellenistic worlds, and advances our understanding of the broad social signifi cance of the past breeding of equids in the Armenian Highlands.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB - golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin. That maps to chromosome 1q24. The encoded protein has a function in the secretory pathway. Was identified by-teIrminal kinase-like protein, and thus it may function in mitosis? Mutations in this gene have been associated with geroderma osteodysplastica. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. mutations, a homozygous Frameshift mutation (c.306dup p.(pro 103 Thrfs*20). Interestingly, phenotypic variability was observed in this patient with GO features that were atypical than the cases reported in the literature. As he looks tall stature where the most of cases reported were short and arachnodactyly of fingers which mimic and other syndromes.

Disparity in Populace Phenotype Impels Predisposition to Variations in Health Status

Background: The disparity in populace phenotype, embracing stature and pigmentation, drives of internal physiological constituent and adaptation to the external environment, impel variations in populace health status. The study tends to explore how significantly populaces phenotype influenced by internal or external exposures, and how effectually it prognosticates predisposition to variant health states. Methods: Ecological study encompassing twenty states residing on antipodes (North and South) endures distinct exposures, exhibit disparate phenotypes, execute different health status. Each State selected employing non-proportion quota sampling, standing extreme on either stature or pigmentation, residing in cold or hot region, contrasted on considered variables embracing UV-index, malnutrition, healthy life expectancy, fertility rate, natural increase, and top five causes of mortality. All computation, analysis, and interpretation perform employing MS-EXCEL. The complete compilation phase last from March to June 2019. Results: Findings reveal a strong association between exposures and phenotypes, UV-index and pigmentation (r = 0.96), malnutrition and stature (r = -0.81). Stature descends and pigmentation ascends along the latitude (North to South). Populace light pigmentation tall stature executes healthy prolong life span contrast to deep pigmentation standing short. Cardiac and cancer diseases significantly reported among statured nations. While high susceptibility to Influenza/ Pneumonia, and HIV/AIDS observe in pigmented nations. Conclusion: Decisively homo sapiens phenotypes inordinately servile to internal and external exposures effectually prognosticate predisposition to distinct health states. Enforcement of measures mitigating populace internal and external exposure can elicit desire output in phenotype and outcomes in health status.