A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

Cushing disease (CD), a rare endocrine disorder characterized by a pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH), leads to overproduction of cortisol by the adrenal glands and, depending on severity and duration, manifests with a broad spectrum of clinical signs and symptoms, ranging from classical features to more common conditions seen in the general population. Discovery of molecular and pathogenic mechanisms related to the development of CD tumors has increased in recent years, almost two-thirds of the somatic variants cases have been linked to the USP8 gene, while very rare germline variants in MEN1 and AIP genes have been associated with pituitary adenomas. Variants affecting the RET proto-oncogene, which encodes a receptor tyrosine kinase involved in cell growth and differentiation, are implicated in the development of medullary thyroid carcinoma (MTC) and its hereditary form, multiple endocrine neoplasia type 2 (MEN2).

Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.

Turnpenny-Fry Syndrome (TPFS) is a rare genetic disorder characterized by a severe developmental delay and a distinctive facial gestalt. It is caused by mutations in the Polycomb Group Ring Finger Protein 2 (PCGF2) gene, which is also known to play a role in numerous tumor types. Up to date, there have been no published case reports of patients with TPFS and concomitant malignancies.

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.

Introduction: Inborn errors of metabolism (IEM) are genetic diseases involving congenital disorders of enzyme activities. Most follow Mendelian autosomal recessive inheritance and few follow mitochondrial inheritance. In many cases, after the birth of an affected child parents discover that have been the carriers for the condition and worry about the risk of recurrence in future offspring.

Parental gonadossomatic mosaicism in -related intellectual disability and impact on genetic counseling-case report.

Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of [c.2827C>T p.

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

Unlabelled: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by loss of function. It is characterized by sensorineural hearing loss in childhood, progressive optic atrophy in early adulthood, early onset dementia and psychiatric symptoms of variable expressivity. We present a family with 4 affected males, explore age-related and interfamilial variability and review the literature.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

Objective: Genetic counseling and carrier screening are part of the gamete donation process by healthy individuals. We aim to review the findings of genetic counseling and carrier screening of a cohort of candidates at our public gametes bank.

Methods: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist before donation.

Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern.

Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism.

Case Report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.