Patient Demographics
Search for other papers by Wouter W de Herder in
Google Scholar
PubMed
Summary
At the end of the 19th century, an 18-year-old lady gave birth to a well-proportioned, though very small, son. After delivery, the mother developed a full-grown beard, whereas the son always remained of small stature. The mother developed diabetes mellitus and died, aged 59, from a complicated severe cold. The son died at the age of 91 because of chronic kidney disease. The differential diagnosis in the son is isolated growth hormone deficiency. The mother might have suffered luteoma of pregnancy, polycystic ovary syndrome (PCOS), or Sertoli–Leydig cell tumor(s). The two cases are apparently coincidental/not related in pathophysiology.
Learning points
-
Hirsutism occurring directly postpartum can have several causes.
-
Patients with isolated growth hormone deficiency can live a long life without the substitution of growth hormone.
-
Coincidence does not necessarily imply correlation.
-
In the past, patients with endocrine disorders like severe hirsutism or small stature were employed at circuses and fairs to entertain the audience as curiosities.
Search for other papers by Erica A Steen in
Google Scholar
PubMed
Rady Children’s Hospital, University of California, San Diego, California, USA
Search for other papers by Susan A Phillips in
Google Scholar
PubMed
Summary
A 6.6-year-old female presented to endocrinology with precocious puberty for evaluation and management. Workup was initiated, and a diagnosis of central precocious puberty was confirmed. A decision was made to initiate pubertal blockade using gonadotropin-releasing hormone agonist (GnRHa) therapy with depot leuprolide acetate injections every 3 months. The patient received the first depot leuprolide acetate injection in the right ventrogluteal area. Six hours following the injection, the patient was reported to be inconsolable in pain, which was localized to the right hip site of the earlier injection and associated with a refusal to ambulate. The pain and discomfort continued to progress over the next 24 h despite an alternating regimen of Tylenol and ibuprofen prompting admission to the emergency department. Vital signs demonstrated a low-grade fever and elevated C-reactive protein. An ultrasound of the right hip demonstrated fluid accumulation within the joint. Over the next week, the patient was unable to walk independently and required assistance for activities of daily living. By 2 weeks after the injection, the pain began to remit, and the patient resumed activities of daily living. Following consultation with allergy, a decision was made to continue GnRHa suppressive therapy with an alternative analog (Triptodur). The patient tolerated subsequent treatment without reaction.
Learning points
-
Although gonadotropin-releasing hormone agonists (GnRHa) have a generally good safety profile, there is a history of both local and systemic hypersensitivity reactions associated with their use.
-
Despite the long-acting formulation of depot leuprolide acetate, the systemic reaction in this case appears to be self-limited.
-
Discontinuation of therapy or a change to an alternative formulation of GnRHa analog should be considered based on the need for therapy versus the potential risk of rechallenge.
Search for other papers by Tejal Patel in
Google Scholar
PubMed
Search for other papers by Rachel Longendyke in
Google Scholar
PubMed
Department of Pediatrics, George Washington School of Medicine, Washington, District of Columbia, USA
Search for other papers by Roopa Kanakatti Shankar in
Google Scholar
PubMed
Search for other papers by Nadia Merchant in
Google Scholar
PubMed
Summary
Iodine nutrition is a growing issue within the USA due to newer trends of non-iodized salts. There are no recent reviews looking at the current state of iodine deficiency-induced hypothyroidism in children in the USA. We performed a retrospective chart review at our tertiary pediatric endocrine clinic; four met the diagnostic criteria for iodine deficiency defined by a low urine iodine level. We further characterized severity of disease, risk factors, goiter, thyroid labs and antibodies. All cases had significant goiter and were diagnosed within the last 2 years. One case had iodine deficiency due to no iodized salt intake along with concurrent diagnosis of developmental delay and multiple food allergies, while others involved the use of non-iodized salts. Two cases had iodine deficiency along with autoimmunity. It is critical to obtain a dietary history for all patients who present with goiter and/or hypothyroidism. There may be a need to consider reevaluating current preventative measures for iodine deficiency, especially for certain vulnerable populations such as children who do not consume iodized salt.
Learning points
-
In recent decades, iodine nutrition has become a growing concern due to changing dietary patterns and food manufacturing practices.
-
A dietary history is crucial to obtain in children presenting with hypothyroidism and goiter, especially in children with restrictive diets due to behavioral concerns, developmental delays, or multiple food allergies.
-
Of the 12 different types of salts commercially available, only table salt contains iodine in an appropriate amount; thus, individuals using specialty salts can develop mild to moderate iodine deficiency-related thyroid disease.
Search for other papers by Stephanie Patrick in
Google Scholar
PubMed
Search for other papers by Deirdre James in
Google Scholar
PubMed
Summary
Thyroid cancer is one of the most common manifestations of Cowden syndrome, yet the syndrome is rare. The incidence of Cowden syndrome is 1 in 200,000. The diagnosis can be made clinically when patients present with a combination of symptoms such as mucocutaneous lesions with a strong personal or family history of thyroid, breast, endometrial, and colorectal cancer. A high index of suspicion is required to provide a clinical diagnosis utilizing major and minor criteria. Once a clinical diagnosis is made, genetic testing for a PTEN mutation, a tumor suppressor gene, is recommended. Cancer surveillance should be performed for those with positive genetic testing as well as those with negative genetic testing who still meet clinical diagnostic criteria. We present two cases of Cowden syndrome: one case involving an increasing number of thyroid nodules in a patient with known Cowden syndrome and another patient with a strong family history of cancer, personal history of follicular thyroid cancer, and numerous colonic polyps on screening colonoscopy. These cases demonstrate how early diagnosis of Cowden syndrome can help detect early cancer in both the patient and affected relatives.
Learning points
-
Diagnosing Cowden syndrome helps pre-risk stratification for early cancer screening.
-
The diagnosis of Cowden syndrome can be made with a combination of major and minor criteria: any two major criteria with or without a minor criterion; one major and one minor criterion; or three minor criteria.
-
Patients who meet the diagnostic criteria for Cowden syndrome should undergo genetic screening.
Search for other papers by Khalifah A Aldawsari in
Google Scholar
PubMed
Search for other papers by Claudia Mattos in
Google Scholar
PubMed
Search for other papers by Danyal M Khan in
Google Scholar
PubMed
Search for other papers by Omar Beckett in
Google Scholar
PubMed
Search for other papers by Pedro Pagan in
Google Scholar
PubMed
Summary
Dumping syndrome is a rare but potentially serious condition that causes inappropriate postprandial hyperinsulinemia leading to hypoglycemia in children following gastrointestinal surgeries. While dietary modifications are often the first line of treatment, severe cases may require pharmacological intervention to prevent severe hypoglycemia. We present a case of successful treatment of dumping syndrome with diazoxide. A 2-month-old infant with left hypoplastic heart syndrome who underwent single ventricle palliation pathway and developed feeding intolerance that required Nissen fundoplication. Postprandial hypoglycemia was detected following the procedure, with glucose level down to 12 mg/dL, and the diagnosis of dumping syndrome was established. The patient was successfully managed with diazoxide, which effectively resolved postprandial hypoglycemia without any major adverse events. The patient was eventfully weaned off the medication at the age of 5 months. This case highlights the potential role of diazoxide in the management of pediatric patients with postprandial hyperinsulinemic hypoglycemia secondary to dumping syndrome.
Learning points
-
Dumping syndrome is a possible complication of gastrointestinal surgeries and should be suspected in children with abnormal glucose levels.
-
Postprandial hyperglycemia should be monitored closely for significant subsequent hypoglycemia.
-
Diazoxide might be considered as part of the treatment plan for dumping syndrome.
Search for other papers by Erica A Steen in
Google Scholar
PubMed
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA
Search for other papers by Mary E Patterson in
Google Scholar
PubMed
Search for other papers by Michelle Rivera-Vega in
Google Scholar
PubMed
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA
Search for other papers by Susan A Phillips in
Google Scholar
PubMed
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.
Search for other papers by Foram Patel in
Google Scholar
PubMed
Search for other papers by Ginger Darling in
Google Scholar
PubMed
Search for other papers by Ahmed Torky in
Google Scholar
PubMed
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.
Pediatric Endocrinology, University of California at Davis, Sacramento, California, USA
Search for other papers by Caroline Schulmeister in
Google Scholar
PubMed
Pediatric Nephrology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Search for other papers by Jason Lee in
Google Scholar
PubMed
Search for other papers by Farzana Perwad in
Google Scholar
PubMed
Search for other papers by Roger Long in
Google Scholar
PubMed
Search for other papers by Shylaja Srinivasan in
Google Scholar
PubMed
Summary
Skeletal abnormalities with delayed bone age and decreased linear bone growth are commonly found in children with prolonged juvenile hypothyroidism. However, rachitic bone abnormalities have not been previously reported in children with acquired hypothyroidism. Here, we present a case of newly found rickets in an 8-year-old female with untreated acquired hypothyroidism secondary to Hashimoto’s thyroiditis. Laboratory finding for abnormalities in calcium/phosphorus homeostasis and hormones that regulate skeletal health was normal. Her radiographic anomalies resolved with levothyroxine treatment alone, suggesting that hypothyroidism was the etiology of the rickets. To our knowledge, this is the first case report of rickets associated with long-standing severe acquired hypothyroidism that resolved exclusively with thyroid repletion.
Learning points
-
Thyroid hormone plays an important role in bone mineralization.
-
Prolonged hypothyroidism can result in rachitic bone abnormalities noted on radiographs.
-
Hypothyroidism should be considered in the evaluation of a child with rickets.
Search for other papers by Kara Alex-Ann Beliard in
Google Scholar
PubMed
Search for other papers by Srinidhi Shyamkumar in
Google Scholar
PubMed
Search for other papers by Preneet Cheema Brar in
Google Scholar
PubMed
Search for other papers by Robert Rapaport in
Google Scholar
PubMed
Summary
We describe a case of an infant who presented with clinical features of hyperthyroidism. The child was found to be tachycardic, hypertensive and diaphoretic, she was noted to have poor weight gain and difficulty in sleeping. The child was admitted to the pediatric intensive care unit for care. She was found to have biochemical evidence of hyperthyroidism with positive thyroid stimulating immunoglobulin. She responded well to methimazole and propranolol and had a remarkable recovery. She is the youngest patient to be diagnosed with Graves disease in the English literature, at 12 months of life.
Learning points
-
Hyperthyroidism must always be considered even at very young age, for patient presenting with poor weight gain and hyperdynamic state.
-
Autoimmune diseases are becoming more common in infancy.
-
Craniosynostosis and increased height for age are well-documented consequences of untreated hyperthyroidism in developing children.
Search for other papers by Celina Caetano in
Google Scholar
PubMed
Search for other papers by Jennifer Stroop in
Google Scholar
PubMed
Search for other papers by Faripour Forouhar in
Google Scholar
PubMed
Division of Pediatric Hematology/Oncology, Connecticut Children’s Medical Center, Hartford, Connecticut, USA
Search for other papers by Andrea Orsey in
Google Scholar
PubMed
Search for other papers by Carl Malchoff in
Google Scholar
PubMed
Summary
Familial paraganglioma syndrome type 1 (PGL-1) is maternally imprinted, caused by SDHD mutations on the paternally inherited allele, and presents with paragangliomas and pheochromocytomas that are usually benign. We describe a kindred with a germline c.57delG SDHD mutation that demonstrates an aggressive and possibly expanded phenotype. Eight individuals across four generations were heterozygous for the c.57delG SDHD mutation. The three with known paternal inheritance were clinically affected. The aggressive phenotype was manifested by a neck paraganglioma with distant metastases, and to a lesser degree a neck paraganglioma infiltrating into local connective tissue and a pheochromocytoma presenting at age 8 y. A pulmonary capillary hemangioma may expand the SDHD phenotype. We conclude that the c.57delG SDHD mutation may confer a more aggressive and possibly expanded phenotype than other SDHD mutations.
Learning points:
-
The c.57delG SDHD mutation may confer a more aggressive phenotype than other mutations associated with familial paraganglioma syndrome type 1.
-
A capillary hemangioma, a component of other pseudohypoxia states, was observed in the lung of a single member of the c.57delG SDHD kindred.
-
This report supports the hypothesis of others that mutations found near the beginning of the SDHD open reading frame are more likely to demonstrate an aggressive phenotype.
