scholarly journals Van wyk-grumbach syndrome: an unusual presentation of long standing hypothyroidism with early menarche.

2019 ◽  
Vol 2 (3) ◽  
pp. 01-04
Author(s):  
Hina Gul

Hypothyroidism is generally associated with delayed puberty, but long standing untreated hypothyroidism in young children can lead to pseudo-precocious puberty. Hypothyroidism induced precocious puberty presents with thelarche, menarche, galactorrhea, absence of sexual hair, delayed bone growth also known as van wyk-grumbach syndrome. Here we report an 8 years old girl presented to us with history of cyclical per vaginal bleeding since age of 3 years. Upon further workup there were bilateral polycystic ovaries on ultrasonography, upon subsequent investigations child was diagnosed with hypothyroidism.Due to lack of neonatal screeing for hypothyroisdim,lack of awareness among genral population such cases are missed and often presents late to healthcare pfofessionals.

Author(s):  
Victoria C Andriessen ◽  
Marissa Lightbourne ◽  
Chelsi Flippo ◽  
Fabio R Faucz ◽  
Angela Delaney ◽  
...  

Abstract Sex hormone-binding globulin (SHBG) in the blood is a major determinant of bioactivity for key sex steroids such as testosterone and estradiol. Low serum levels of SHBG have been associated with obesity, polycystic ovaries and metabolic syndrome, and other states associated with hyperandrogenemia. A 9-year, 6-month-old girl presented with a history of peripheral precocious puberty and aggressive behavior. The patient’s SHBG level was remarkably low for her age, at less than 5 nmol/L [reference range for a girl with a bone age of 10 years, 73 nmol/L (SEM= 10)](1). Upon genetic and protein analysis, the patient was found to have a homozygous missense potentially pathogenic variant in the SHBG gene (c.554 C>T, p.P185L); her parents were asymptomatic heterozygote carriers. Laboratory investigations supported the possible involvement of this genetic alteration in the patient’s phenotype. Various analyses of this variant support its pathogenicity, although the exact mechanism remains unclear. In conclusion, we present a genetic SHBG variant in the homozygote state that may have been associated with gonadotropin-independent precocious puberty in a young girl.


2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Dhrubajyoti Sharma ◽  
Devi Dayal ◽  
Anju Gupta ◽  
Akshay Saxena

Children with hypothyroidism generally have delayed pubertal development. Rare association with precocious puberty may occur especially in long standing untreated patients. The cardinal features of hypothyroidism induced pseudo precocious pubertal development include thelarche, galactorrhea and menarche. Other characteristics features are an absence of sexual hair and retardation of linear growth. Its manifestation as isolated menarche has been rarely reported. Recently, a five and half year old girl presented to us with history of one episode of vaginal bleeding. A pelvic ultrasonogram revealed multiple cysts in both ovaries and subsequent investigations led to a diagnosis of autoimmune hypothyroidism.


2011 ◽  
Vol 366 (1567) ◽  
pp. 1179-1187 ◽  
Author(s):  
Paul L. Harris ◽  
Kathleen H. Corriveau

Young children readily act on information from adults, setting aside their own prior convictions and even continuing to trust informants who make claims that are manifestly false. Such credulity is consistent with a long-standing philosophical and scientific conception of young children as prone to indiscriminate trust. Against this conception, we argue that children trust some informants more than others. In particular, they use two major heuristics. First, they keep track of the history of potential informants. Faced with conflicting claims, they endorse claims made by someone who has provided reliable care or reliable information in the past. Second, they monitor the cultural standing of potential informants. Faced with conflicting claims, children endorse claims made by someone who belongs to a consensus and whose behaviour abides by, rather than deviating from, the norms of their group. The first heuristic is likely to promote receptivity to information offered by familiar caregivers, whereas the second heuristic is likely to promote a broader receptivity to informants from the same culture.


2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Claire Sutton ◽  
Prue Standen ◽  
Jade Acton ◽  
Christopher Griffin

A 44-year-old nulliparous woman was transferred to a tertiary obstetric hospital for investigation of acute onset abdominal pain. She was at gestation of 32 weeks and 2 days with a history of previous laparoscopic fundal myomectomy. An initial bedside ultrasound demonstrated oligohydramnios. Following an episode of increased pain early the following morning, a formal ultrasound diagnosed a uterine rupture with the fetal arm extending through a uterine rent. An uncomplicated classical caesarean section was performed and the neonate was delivered in good condition but with a bruised and oedematous right arm. The neonate was transferred to the Special Care Nursery for neonatal care. The patient had an uncomplicated postoperative course and was discharged home three days following delivery. This is an unusual presentation of uterine rupture following myomectomy where the fetal arm had protruded through the uterine wall.


2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Ahmad M. Mansour ◽  
Bachir Abiad ◽  
Fouad I. Boulos ◽  
Ramzi Alameddine ◽  
Fadi C. Maalouf ◽  
...  

Purpose. To discuss an unusual presentation of ocular toxocariasis.Methods. Case report.Results. A 40-year-old woman presented with decreased vision in the left eye with a long history of recurrent red eye from uveitis. Eosinophilia and positive ELISA titers forToxocara canisfavored the diagnosis of ocular toxocariasis. Over 3 months, an anterior scleral mass had a rapid growth raising the possibility of medulloepithelioma, which rarely can mimic uveitic syndromes. Surgical plan changed from local excision to enucleation. Histopathology demonstrated a large homogeneous mass of chronic inflammatory cells with inflammation of the overlying thinned out sclera, medial rectus insertion, and limbal cornea. The triad of peripheral granuloma, eosinophilia, and positive blood serology established the diagnosis of ocular toxocariasis.Conclusions. Ocular toxocariasis can mimic ocular malignancy such as medulloepithelioma in adults and rarely presents as an anterior scleral mass.


2021 ◽  
Vol 14 (8) ◽  
pp. e243968
Author(s):  
Naomi N Adjei ◽  
Anna Y Lynn ◽  
Ernest Topran ◽  
Oluwatosin O Adeyemo

Dengue is a mosquito-borne virus that causes an influenza-like illness ranging in severity from asymptomatic to fatal. Dengue in pregnancy has been associated with adverse outcomes including miscarriage, preterm birth and fetal and neonatal death. We present the case of a multiparous woman who presented at 9 weeks’ gestation with vaginal bleeding and abdominal cramping after a 1 month stay in Mexico. She was initially diagnosed with miscarriage with plan for outpatient follow-up. She was readmitted 3 days later with fever, retro-orbital pain, arthralgia, rash, pancytopenia and transaminitis and managed with intravenous fluids and acetaminophen. Of note, dengue serology was initially negative but retesting 2 days later was positive. It is imperative that clinicians have heightened suspicion for dengue in pregnant women with history of travel to or residence in a dengue-endemic area and consistent clinical evidence.


1992 ◽  
Vol 29 (5) ◽  
pp. 470-474 ◽  
Author(s):  
Bente Felix-Schollaart ◽  
Jan B. Hoeksma ◽  
Jean Paul Van De Velde ◽  
Jerôme I. Puyenbroek ◽  
Birte Prahl-Andersen

The reproductive history was studied to evaluate if the three types of solitary, nonsyndromic clefts: cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) are homogeneous entities. Occurrence of fetal loss, maternal health, and drug consumption of the mother during the pregnancy were compared in cases involving three types of clefts. Data was gathered from 87 children with clefts, 55 males and 32 females. Spontaneous abortions and vaginal bleeding were found to occur significantly more often in the (older) mother of a CLP child. This suggests that the factors involved in the etiology of CLP differ from the factors involved in CL and CP. Therefore, grouping of data of the three types of clefts in studies on the etiology should be avoided.


2018 ◽  
Vol 49 (4) ◽  
pp. 774-786 ◽  
Author(s):  
Kathryn L. Cabbage ◽  
Kelly Farquharson ◽  
Jenya Iuzzini-Seigel ◽  
Jennifer Zuk ◽  
Tiffany P. Hogan

Purpose Children with dyslexia have speech production deficits in a variety of spoken language contexts. In this article, we discuss the nature of speech production errors in children with dyslexia, including those who have a history of speech sound disorder and those who do not, to familiarize speech-language pathologists with speech production–specific risk factors that may help predict or identify dyslexia in young children. Method In this tutorial, we discuss the role of a phonological deficit in children with dyslexia and how this may manifest as speech production errors, sometimes in conjunction with a speech sound disorder but sometimes not. We also briefly review other factors outside the realm of phonology that may alert the speech-language pathologist to possible dyslexia. Results Speech-language pathologists possess unique knowledge that directly contributes to the identification and remediation of children with dyslexia. We present several clinical recommendations related to speech production deficits in children with dyslexia. We also review what is known about how and when children with speech sound disorder are most at risk for dyslexia. Conclusion Speech-language pathologists have a unique opportunity to assist in the identification of young children who are at risk for dyslexia.


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