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American Family Physician Jun 2017Slipped capital femoral epiphysis (SCFE) is the most common hip disorder in adolescents, occurring in 10.8 per 100,000 children. SCFE usually occurs in those eight to 15... (Review)
Review
Slipped capital femoral epiphysis (SCFE) is the most common hip disorder in adolescents, occurring in 10.8 per 100,000 children. SCFE usually occurs in those eight to 15 years of age and is one of the most commonly missed diagnoses in children. SCFE is classified as stable or unstable based on the stability of the physis. It is associated with obesity, growth spurts, and (occasionally) endocrine abnormalities such as hypothyroidism, growth hormone supplementation, hypogonadism, and panhypopituitarism. Patients with SCFE usually present with limping and poorly localized pain in the hip, groin, thigh, or knee. Diagnosis is confirmed by bilateral hip radiography, which should include anteroposterior and frog-leg views in patients with stable SCFE, and anteroposterior and cross-table lateral views in unstable SCFE. The goals of treatment are to prevent slip progression and avoid complications such as avascular necrosis, chondrolysis, and femoroacetabular impingement. Stable SCFE is usually treated using in situ screw fixation. Treatment of unstable SCFE also usually involves in situ fixation, but there is controversy about timing of surgery and the value of reduction. Postoperative rehabilitation of patients with SCFE may follow a five-phase protocol.
Topics: Adolescent; Bone Screws; Child; Diagnosis, Differential; Epiphyses, Slipped; Humans
PubMed: 28671425
DOI: No ID Found -
Italian Journal of Pediatrics Sep 2021In healthy adolescents, delayed pubarche is generally a benign condition that is caused by a physiological discrepancy between gonadarche and adrenarche. In presence of... (Review)
Review
In healthy adolescents, delayed pubarche is generally a benign condition that is caused by a physiological discrepancy between gonadarche and adrenarche. In presence of other clinical signs and symptoms, delayed pubarche can be caused by single or multiple hormones deficiency (such as adrenal insufficiency, panhypopituitarism and hypothyroidism) and/or genetic conditions (Turner syndrome, androgen insensitivity syndrome). Exposition to endocrine disruptors has also been described as a possible cause of delay of pubic hair development. Basic blood tests, karyotype and first level imaging studies are helpful in the differential diagnosis.
Topics: Addison Disease; Adolescent; Adrenal Insufficiency; Androgen-Insensitivity Syndrome; Endocrine Disruptors; Environmental Exposure; Female; Humans; Hypothyroidism; Male; Puberty, Delayed; Turner Syndrome
PubMed: 34488834
DOI: 10.1186/s13052-021-01134-0 -
Cureus Aug 2023Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When...
Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When sarcoidosis affects the nervous system, it is referred to as neurosarcoidosis and is estimated to occur in approximately 5%-15% of sarcoid patients. When neurosarcoidosis affects the pituitary gland, it can result in panhypopituitarism, which can be life-threatening. A 35-year-old male with a known diagnosis of sarcoidosis by skin biopsies presented to the hospital with altered mental status, hypernatremia, hypotension, and hypothermia. He reported symptoms of polyuria and polydipsia for several weeks before admission. Laboratory workup revealed elevated serum sodium at 167 mmol/L, high serum osmolality at 381 mOsm/kg, and low urine osmolality at 381 mOsm/kg, consistent with diabetes insipidus. Anterior pituitary hormone profile workup revealed low 8 am serum cortisol (1.9 mcg/dL) and inappropriately normal adrenocorticotropic hormone (ACTH) (34 pg/ml), low serum free testosterone (<2.5 ng/dL), low luteinizing hormone (0.7 mIU/ml), low follicular stimulating hormone (< 2.6 mIU/ml), low free T4 at 0.4 ng/dL. and inappropriately normal thyroid-stimulating hormone (TSH) at 2.77 uIU/mL. Serum prolactin was mildly elevated at 86.8 ng/mL. Angiotensin-converting enzyme level was within the normal range at 33 U/L. A diagnosis of panhypopituitarism was made. Brain MRI revealed a 3 cm mass in the suprasellar region involving the hypothalamus and bilateral optic tracts with a mass effect on the anterior third ventricle. No discrete pituitary or stalk lesion was identified. A ventriculostomy tube was placed for developing hydrocephalus. A biopsy of the suprasellar mass revealed non-caseating granuloma, confirming neurosarcoidosis. Treatment was initiated with high-dose IV corticosteroids to manage secondary adrenal insufficiency and neurosarcoidosis. He was also started on IV desmopressin and IV levothyroxine to manage his diabetes insipidus and central hypothyroidism. He was transitioned to oral therapy upon discharge. Panhypopituitarism secondary to neurosarcoidosis is a rare presentation that can occur due to the infiltration of the pituitary gland or the infiltration of the hypothalamus affecting the hypothalamic-pituitary axis. Neurosarcoidosis should be considered a differential when evaluating patients with symptoms consistent with panhypopituitarism. Prompt diagnosis and initiation of corticosteroids and deficient hormones can be lifesaving.
PubMed: 37692696
DOI: 10.7759/cureus.43169 -
Journal of the ASEAN Federation of... 2023
Topics: Humans; Uvula; Cleft Palate; Hypopituitarism
PubMed: 37252424
DOI: 10.15605/jafes.038.01.18 -
Acta Bio-medica : Atenei Parmensis Sep 2019Infertility due to genetic mutations that cause other defects, besides infertility, is defined as syndromic. Here we describe three of these disorders for which we... (Review)
Review
Infertility due to genetic mutations that cause other defects, besides infertility, is defined as syndromic. Here we describe three of these disorders for which we perform genetic tests. 1) Hypopituitarism is an endocrine syndrome characterized by reduced or absent secretion of one or more anterior pituitary hormones with consequent dysfunction of the corresponding peripheral glands. Deficiencies in all the hormones is defined as pan-hypopituitarism, lack of two or more hormones is called partial hypopituitarism, whereas absence of a single hormone is defined as selective hypopituitarism. Pan-hypopituitarism is the rarest condition, whereas the other two are more frequent. Several forms exist: congenital, acquired, organic and functional. 2) The correct functioning of the hypothalamic-pituitary-gonadal axis is fundamental for sexual differentiation and development during fetal life and puberty and for normal gonad function. Alteration of the hypothalamic-pituitary system can determine a condition called hypogonadotropic hypogonadism, characterized by normal/low serum levels of the hormones FSH and LH. 3) Primary ciliary dyskinesia is frequently associated with infertility in males because it impairs sperm motility (asthenozoospermia). Primary ciliary dyskinesia is a group of genetically and phenotypically heterogeneous disorders that show morpho-structural alterations of the cilia. Adult women with primary ciliary dyskinesia can be subfertile and have an increased probability of extra-uterine pregnancies. This is due to delayed transport of the oocyte through the uterine tubes.
Topics: Ciliary Motility Disorders; Female; Genetic Predisposition to Disease; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hypogonadism; Hypopituitarism; Infertility; Male
PubMed: 31577259
DOI: 10.23750/abm.v90i10-S.8764 -
Indian Journal of Endocrinology and... Jul 2011Central hypothyroidism is defined as hypothyroidism due to insufficient stimulation by thyroid stimulating hormone (TSH) of an otherwise normal thyroid gland. It has an...
Central hypothyroidism is defined as hypothyroidism due to insufficient stimulation by thyroid stimulating hormone (TSH) of an otherwise normal thyroid gland. It has an estimated prevalence of approximately 1 in 80,000 to 1 in 120,000. It can be secondary hypothyroidism (pituitary) or tertiary hypothyroidism (hypothalamus) in origin. In children, it is usually caused by craniopharyngiomas or previous cranial irradiation for brain tumors or hematological malignancies. In adults, it is usually due to pituitary macroadenomas, pituitary surgeries or post-irradiation. Fatigue and peripheral edema are the most specific clinical features. Diagnosis is established by the presence of normal to low-normal TSH on the background of low-normal thyroid hormones, confirmed by the thyrotropin releasing hormone stimulation test. Therapy includes use of levothyroxine titrated to improvement in symptomology and keeping free T4 in the upper limit of normal reference range.
PubMed: 21966662
DOI: 10.4103/2230-8210.83337 -
Endocrinology, Diabetes & Metabolism... May 2023Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and...
SUMMARY
Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism. The FOXA2 gene has been involved in the development of the pancreas as well as the pituitary gland. Six cases have been reported thus far with FOXA2 mutations presenting with variable degrees of hypopituitarism, and only two patients had permanent hyperinsulinism; other cases have been reported with microdeletions in 20p11, the location that encompasses FOXA2, and those patients presented with a wider phenotype. A full-term female infant presented with severe hypoglycemia. Critical sampling showed an insulin of 1 mIU/mL, suppressed beta-hydroxybutyric acids, and suppressed free fatty acids. Blood glucose responded to glucagon administration. Growth hormone (GH) stimulation test later showed undetectable GH in all samples, and cortisol failed to respond appropriately to stimulation. Gonadotropins were undetectable at 1 month of life, and MRI showed ectopic posterior pituitary, interrupted stalk, hypoplastic anterior pituitary, cavum septum pellucidum, and diminutive appearance of optic nerves. Whole-exome sequencing revealed a likely pathogenic de novo c.604 T>C, p.Tyr202His FOXA2 mutation. We expand the known phenotype on FOXA2 mutations and report a likely pathogenic, novel mutation associated with hyperinsulinism and panhypopituitarism.
LEARNING POINTS
FOXA2 has been shown to play an important role in the neuroectodermal and endodermal development. FOXA2 mutation may lead to the rare combination of hyperinsulinism and panhypopituitarism. Patients reported so far all responded well to diazoxide. Dysmorphology may be subtle, and liver functions should be monitored.
PubMed: 37219505
DOI: 10.1530/EDM-22-0355 -
CMAJ : Canadian Medical Association... Dec 2018
Topics: Adrenal Insufficiency; Humans; Hydrocortisone; Hypoglycemia; Hypopituitarism; Hypotension; Magnetic Resonance Imaging; Male; Middle Aged; Pituitary Apoplexy; Tomography, X-Ray Computed
PubMed: 30510048
DOI: 10.1503/cmaj.180658