Three Siblings With Familial Isolated Hypoparathyroidism: A Diagnostic Journey From to Novel Variant.

We report a patient who initially presented at 4 days old with hypocalcemia, hypoparathyroidism, and elevated phosphorous level. Treatment was initiated with calcitriol, calcium carbonate (CaCO), vitamin D, and low phosphorous formula. Family history was positive for an activating calcium sensing receptor () variant (R990G) identified previously in 2 older siblings who were treated with CaCO and calcitriol.

Two Cases of Thyroiditis in Adolescents Following COVID-19 Vaccinations.

With the onset of the COVID-19 pandemic and the development of widespread vaccination strategies, there have been case reports in the adult literature suggesting an increase in thyroiditis after COVID-19 vaccination. We herein describe 2 children who presented with thyroiditis after COVID-19 vaccination. Two children who received Pfizer-BioNTech COVID-19 messenger RNA vaccines later developed symptoms of thyroid hyperactivity, had positive thyroid-stimulating immunoglobulin (TSI) levels and received treatment directed toward Graves disease.

Asparagine couples mitochondrial respiration to ATF4 activity and tumor growth.

Mitochondrial respiration is critical for cell proliferation. In addition to producing ATP, respiration generates biosynthetic precursors, such as aspartate, an essential substrate for nucleotide synthesis. Here, we show that in addition to depleting intracellular aspartate, electron transport chain (ETC) inhibition depletes aspartate-derived asparagine, increases ATF4 levels, and impairs mTOR complex I (mTORC1) activity.

Central diabetes insipidus associated with refeeding in anorexia nervosa: A case report.

Anorexia nervosa (AN) has been associated with a multitude of hypothalamic pituitary abnormalities, although it is unknown which aberrations reflect disease causation and which are the consequences of severe malnutrition. Among these endocrinopathies, hypothalamic-posterior pituitary aberrations have been described, including disorders of osmoregulation. We report the case of an adolescent female with a history of severe AN, restricting subtype, treated aggressively with multiple hospitalizations.

Anti-MuSK-Positive Myasthenic Crisis in a 7-Year-Old Female.

A seven-year-old African American female with anti-MuSK-positive Juvenile Myasthenia Gravis collapsed while at school from progressively worsening weakness and dyspnea. On initial emergency department presentation, she required 15 liters per minute of supplemental oxygen to maintain oxygen saturation above 92%. Initial pulmonary function tests and venous blood gas led to the decision to place her on noninvasive positive pressure ventilation (NPPV) with BiPAP in the emergency department.

A genetic basis for functional hypothalamic amenorrhea.

Background: Functional hypothalamic amenorrhea is a reversible form of gonadotropin-releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive exercise, nutritional deficits, or psychological distress. Women vary in their susceptibility to inhibition of the reproductive axis by such stressors, but it is unknown whether this variability reflects a genetic predisposition to hypothalamic amenorrhea. We hypothesized that mutations in genes involved in idiopathic hypogonadotropic hypogonadism, a congenital form of GnRH deficiency, are associated with hypothalamic amenorrhea.

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.

Context: Idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH) or anosmia (Kallmann syndrome) is associated with defects in the production or action of GnRH. Accordingly, most IHH patients respond to physiological pulsatile GnRH replacement by normalizing serum LH, FSH, and testosterone (T) levels and achieving gametogenesis; some patients, however, show atypical responses. Interestingly, several IHH-associated genes are expressed in multiple compartments of the hypothalamic-pituitary-gonadal axis.

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.

Background: The onset of sexual maturation at puberty is a unique developmental period from a neuroendocrine perspective in that it is characterized by enhanced FSH secretion and FSH responsiveness to exogenous GnRH (vs. LH) from the gonadotrope, yet the mechanism of these dynamics remains unclear. This study aimed to elucidate this phenomenon using a human disease model of GnRH deficiency (idiopathic hypogonadotropic hypogonadism, IHH) in which GnRH input can be experimentally controlled.