-
Cureus May 2023Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of...
Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of hypothyroidism, such as fatigue, weight gain, menstrual abnormalities, bradycardia, thick, coarse skin, muscle fasciculations, and hyporeflexia, among others. Herein we present a case of central hypothyroidism along with panhypopituitarism presenting with unusual symptoms of tongue fasciculation, hyperreflexia, and myoclonic jerks.
PubMed: 37332415
DOI: 10.7759/cureus.39140 -
Cureus Aug 2023The presence of pregnancy in a brain-dead woman is a rare circumstance. We present a case of a 31-year-old woman who was 22 weeks pregnant at the time of diagnosis of...
The presence of pregnancy in a brain-dead woman is a rare circumstance. We present a case of a 31-year-old woman who was 22 weeks pregnant at the time of diagnosis of brain death after intracranial and subarachnoid hemorrhage. After a multidisciplinary approach, the decision was made to continue somatic support to maintain the pregnancy until optimal fetus viability. Cesarean section was performed after 11 weeks (33 weeks gestational age) of brain-death diagnosis with a successful delivery of a live infant. Management of brain-death complications during pregnancy is described.
PubMed: 37753021
DOI: 10.7759/cureus.44172 -
Cancers Aug 2021We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD.
PURPOSE
We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD.
METHODS
A cross-sectional descriptive examination of a natural history cohort study diagnosed with ECD was conducted at a clinical research center. Subjects underwent baseline endocrine tests of anterior and posterior pituitary function and dedicated pituitary gland MRI scans. We determined the frequency of various pituitary imaging abnormalities in ECD and assessed its relationships with age, sex, body mass index (BMI), V600E status, high sensitivity C-reactive protein (hsCRP), erythrocyte sedimentation rate (ESR), pituitary hormone deficits and number, diabetes insipidus (DI), and panhypopituitarism.
RESULTS
Our cohort included 61 subjects with ECD [age (SD): 54.3 (10.9) y, 46 males/15 females]. API was present in 47.5% (29/61) of ECD subjects. Loss of the posterior pituitary bright spot (36.1%) followed by thickened pituitary stalk (24.6%), abnormal enhancement (18.0%), and pituitary atrophy (14.8%) were the most common abnormalities. DI and panhypopituitarism were more frequent in subjects with API without differences in age, sex distribution, hsCRP, ESR, and V600E status compared to normal pituitary imaging.
CONCLUSIONS
We noted a high burden of API and endocrinopathies in ECD. API was highly associated with the presence of panhypopituitarism and DI. Therefore, a thorough assessment of hypothalamic-pituitary integrity should be considered in subjects with ECD.
PubMed: 34439280
DOI: 10.3390/cancers13164126 -
Endocrinology, Diabetes & Metabolism... May 2023An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips....
SUMMARY
An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips. Laboratory studies demonstrated low free thyroxine (T4) and normal thyroid-stimulating hormone (TSH). A referral to endocrinology was made where the patient was evaluated, and laboratory evaluation was repeated. The patient was asymptomatic and clinically euthyroid with a height consistent with her mid-parental height and was in mid- to late-puberty. The repeated laboratory evaluation demonstrated a pattern suggestive of primary hypothyroidism with low free T4 and an elevated TSH. However, the magnitude of elevation of TSH was less than expected, given the degree of lowering of free T4; therefore, central hypothyroidism was considered. Workup was initiated, and laboratory studies and MRI imaging confirmed an underlying diagnosis of panhypopituitarism in the setting of pituitary stalk interruption syndrome.
LEARNING POINTS
Pituitary stalk interruption syndrome is a rare but important cause of panhypopituitarism. Central hypothyroidism should be suspected in patients with low free thyroxine with an inappropriate degree of elevation of thyroid-stimulating hormone. Workup of central hypothyroidism should include multi-pituitary hormone assessment, and, if evident, MRI imaging should be done. Adrenal insufficiency should be suspected in a hypotensive, critically ill patient who is failing to improve on standard-of-care therapy.
PubMed: 37183887
DOI: 10.1530/EDM-23-0021 -
BMJ Case Reports Jan 2021A man in his early 60s with a medical history of granulomatosis with polyangiitis (GPA) in remission for two decades without maintenance therapy presented with...
A man in his early 60s with a medical history of granulomatosis with polyangiitis (GPA) in remission for two decades without maintenance therapy presented with non-specific complaints of profound fatigue and 40-pound weight loss. He was seronegative for antinuclear antibodies and cytoplasmic antineutrophilic antibodies, but erythrocyte sedimentation rate and C reactive protein levels were elevated. Endocrinological testing revealed adrenal insufficiency, hypogonadism, hypothyroidism and diabetes insipidus. An MRI of the head revealed extensive sinonasal inflammation eroding through the floor of the sella turcica and into the pituitary gland and stalk. Biopsy of the sinonasal tissues was inconclusive. On review of his case, a multidisciplinary team diagnosed him with panhypopituitarism secondary to a recurrence of GPA. He responded well to glucocorticoids and methotrexate with marked reduction of pituitary enhancement on imaging and resolution of diabetes insipidus. He will require lifelong testosterone, levothyroxine and glucocorticoids for hormone replacement therapy.
Topics: Adrenal Insufficiency; Androgens; Diabetes Insipidus; Fatigue; Glucocorticoids; Granulomatosis with Polyangiitis; Hormone Replacement Therapy; Humans; Hypogonadism; Hypopituitarism; Hypothyroidism; Immunosuppressive Agents; Magnetic Resonance Imaging; Male; Methotrexate; Middle Aged; Pituitary Diseases; Pituitary Gland; Recurrence; Rhinitis; Sella Turcica; Sinusitis; Testosterone; Thyroxine; Weight Loss
PubMed: 33509867
DOI: 10.1136/bcr-2020-237774 -
Balkan Medical Journal Jul 2023
Topics: Humans; Autoimmune Hypophysitis; Hypopituitarism; Germinoma; Diagnostic Errors
PubMed: 37227236
DOI: 10.4274/balkanmedj.galenos.2023.2023-3-60 -
Proceedings of the Royal Society of... Feb 1947
Topics: Humans; Hypopituitarism; Pituitary Gland
PubMed: 19993480
DOI: No ID Found -
Minerva Endocrinologica Jun 2016The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone... (Review)
Review
The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone (T) to approach adult male levels. This early neonatal period is a key proliferative window for testicular germ cells and immature Sertoli cells. Although failure to spontaneously initiate (adolescent) puberty is the most evident consequence of a defective gonadotropin-releasing hormone (GnRH) neurosecretory network, absent mini-puberty is also likely to have a major impact on the reproductive phenotype of men with congenital hypogonadotrophic hypogonadism (CHH). Furthermore, the phase of male mini-puberty represents a key window-of-opportunity to identify congenital GnRH deficiency (either isolated CHH, or as part of combined pituitary hormone deficiency) in childhood. Among male neonates exhibiting "red flag" indicators for CHH (i.e. maldescended testes with or without cryptorchidism) a single serum sample (between 4-8 weeks of life) can pinpoint congenital GnRH deficiency far more rapidly and with much greater accuracy than dynamic tests performed in later childhood or adolescence. Potential consequences for missing absent mini-puberty in a male neonate include the lack of monitoring of pubertal progression/lack of progression, and the missed opportunity for early therapeutic intervention. This article will review our current understanding of the mechanisms and clinical consequences of mini-puberty. Furthermore, evidence for the optimal clinical management of patients with absent mini-puberty will be discussed.
Topics: Gonadotropins; Humans; Hypogonadism; Infant, Newborn; Male; Puberty; Puberty, Delayed; Testosterone
PubMed: 27213784
DOI: No ID Found -
Medical Research Archives Oct 2022Snakebite is a preventable yet often-neglected public health hazard with high chronic disability and mortality, mainly faced by rural communities in the...
BACKGROUND
Snakebite is a preventable yet often-neglected public health hazard with high chronic disability and mortality, mainly faced by rural communities in the tropics/subtropics. Endocrinological disorders following snakebite (especially Russell's viper in India) are notably underrecognized and can lead to remarkable morbidity, poor quality of life, and cardiovascular mortality. Anterior pituitary insufficiency has been the most common ailment following Russell's viper envenomation amid those endocrinological dysfunctions. On the contrary, the posterior pituitary and nearby hypothalamus mostly remain unharmed, so central diabetes insipidus is extremely rare following a viperid snakebite envenomation.
CASE PRESENTATION
The authors present a patient developing panhypopituitarism with evident spontaneous central diabetes insipidus 29 years after Russell's viper envenomation. Relevant investigations ruled out other possible etiologies, and he responded well to hormonal replacement therapy.
CONCLUSIONS
Panhypopituitarism with concurrent central diabetes insipidus may occur following snakebite (especially in Russell's viper envenomation). Early recognition and proper management of these complications are quintessential to preventing further misdiagnosis, under-recognition, morbidity, impaired quality of life, and mortality.
PubMed: 36382205
DOI: 10.18103/mra.v10i10.3195 -
Endocrine Reviews Dec 2016The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular... (Review)
Review
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning. We expect that the application of high throughput sequencing will uncover additional contributing genes and eventually become a valuable tool for molecular diagnosis. For example, in the last 3 years, six new genes have been implicated in CPHD using whole-exome sequencing. In this review, we present a historical perspective on gene discovery for CPHD and predict approaches that may facilitate future gene identification projects conducted by clinicians and basic scientists. Guidelines for systematic reporting of genetic variants and assigning causality are emerging. We apply these guidelines retrospectively to reports of the genetic basis of CPHD and summarize modes of inheritance and penetrance for each of the known genes. In recent years, there have been great improvements in databases of genetic information for diverse populations. Some issues remain that make molecular diagnosis challenging in some cases. These include the inherent genetic complexity of this disorder, technical challenges like uneven coverage, differing results from variant calling and interpretation pipelines, the number of tolerated genetic alterations, and imperfect methods for predicting pathogenicity. We discuss approaches for future research in the genetics of CPHD.
Topics: Animals; Genomics; Humans; Hypopituitarism
PubMed: 27828722
DOI: 10.1210/er.2016-1101