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Precocious Puberty: a Red Flag for Malignancy in Childhood

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Precocious Puberty: a Red Flag for Malignancy in Childhood CLINICAL Paul R. D’Alessandro, MD, MSc, Jillian Hamilton, MBChB, Karine Khatchadourian, MD, MSc, Ewa Lunaczek-Motyka, MD, Kirk R. Schultz, MD, Daniel Metzger, MD, Rebecca J. Deyell, MD, MHSc Precocious puberty: A red flag for malignancy in childhood Three clinical cases of precocious puberty resulting from rare but serious functional solid tumors in children highlight the need for physicians to identify the condition early and refer to tertiary care to minimize morbidity and optimize survival. ABSTRACT: Pediatric solid tumors have a range of 1-3 Dr D’Alessandro is a pediatric hematology/ abnormalities. These tumors may present clinical presentations, including those driven by oncology subspecialty resident in the with early onset of isosexual or contrasexual the ectopic production of hormones secreted by Division of Pediatric Hematology, Oncology, puberty as a first symptom. Treatment may some malignancies. Functional tumors lead to a and Bone Marrow Transplant, Department involve surgery, chemotherapy, and/or radio- variety of presentations, including Cushing syn- of Pediatrics, University of British therapy. Genetic testing or counseling may be drome, growth acceleration, abnormal virilization Columbia, British Columbia Children’s indicated for families. Early identification mini- or feminization, and hypertension with electrolyte Hospital Research Institute. mizes disease-related morbidity and mortality abnormalities. Precocious puberty, the onset of Dr Hamilton is a general practice specialty and optimizes outcomes. We present illustrative secondary sexual characteristics before age 8 in trainee, NHS Forth Valley, Larbert, cases of functional solid tumors in children from girls or 9 in boys, may be a warning sign of occult United Kingdom. Dr Khatchadourian is a British Columbia with the aim of educating malignancy. Early referral is critical to optimize pediatric endocrinologist in the Division of physicians about these rare but serious tumors. survival and limit disease- and treatment-related Endocrinology, Department of Pediatrics, morbidities. Diagnostic workup and treatment University of Ottawa, Children’s Hospital Case data should be guided by an interdisciplinary special- of Eastern Ontario. Dr Lunaczek-Motyka Case 1 ist team. Some tumors are associated with inher- is a pediatric hematologist/oncologist in A previously healthy 12-year-old girl presented ited cancer predisposition syndromes, which may the Department of Pediatrics, University with a 3-year history of progressive virilization have implications for surveillance and screening of of Victoria, Victoria General Hospital. and Cushingoid features, including hoarse voice, family members. We describe a series of patients Dr Schultz is a pediatric hematologist/ hirsutism, central obesity, pubic and axillary hair, with rare functional tumors who presented with oncologist in the Division of Pediatric abdominal striae, interscapular fat pad, acan- peripheral precocity to our tertiary referral centre Hematology, Oncology, and Bone Marrow thosis nigricans, and a 6.8 kg weight gain. She at BC Children’s Hospital to highlight key concepts Transplant, Department of Pediatrics, was premenarchal. She had been evaluated by for physicians: recognize, refer early, and review University of British Columbia, BC Children’s multiple clinicians over a period of 18 months, recommendations for genetic screening. Hospital Research Institute. Dr Metzger is a at which point she was assessed by a pediatrician pediatric endocrinologist in the Division of who urgently referred her to our centre. At the Endocrinology, Department of Pediatrics, Background time of consultation, her weight and BMI were University of British Columbia, BC Children’s Functional solid tumors in childhood can > 99.9th percentiles, while her height was at the Hospital Research Institute. Dr Deyell is a arise from the adrenal glands, gonadal tissue, 20th percentile. There were no prior concerns pediatric hematologist/oncologist in the or extra-gonadal tissues. Although these tumors with growth, development, or short stature. The Division of Pediatric Hematology, Oncology, sometimes present with palpable testicular or patient’s blood pressure was 122/63 (94th per- and Bone Marrow Transplant, Department abdominal masses, many do not. Functional centile systolic, 51st percentile diastolic). She of Pediatrics, University of British Columbia, tumors secrete hormones, leading to diverse was Tanner stage 3 for axillary and pubic hair BC Children’s Hospital Research Institute. presentations with Cushing syndrome, preco- and Tanner stage 2 for breast development. No cious puberty, abnormal virilization or femi- lymphadenopathy, abdominal mass, hepato- This article has been peer reviewed. nization, and hypertension with electrolyte splenomegaly, or clitoromegaly were identified. 242 BC MEDICAL JOURNAL VOL. 63 NO. 6 | JULY/AUGUST 2021 D’Alessandro PR, Hamilton J, Khatchadourian K, Lunaczek-Motyka E, Schultz KR, Metzger D, Deyell RJ CLINICAL Investigations revealed elevated serum cor- and the patient was transferred urgently to the chemotherapy in the setting of comorbidities. tisol (367 nmol/L; normal for age and time of pediatric ICU for stabilization. Notably, her pa- She received carboplatin rather than cisplatin day = 61 to 349 nmol/L) and total testosterone ternal grandmother had separate cancers of the to limit renal toxicity, and etoposide at 50% (2.8 nmol/L; normal for age = < 1 nmol/L) with female reproductive tract at age 45 and 50 years. of the usual dose to limit myelosuppression. normal electrolytes. Dehydroepiandrosterone The paternal great-grandfather had passed away Doxorubicin was omitted due to cardiac toxicity sulfate (DHEAS) was normal. Low-dose and from colon cancer in his 70s. risk. Daily oral mitotane was given. After two high-dose dexamethasone suppression tests Serum total testosterone was very high at chemotherapy cycles, repeat PET-CT imaging failed to show suppression of serum and urinary 43.8 nmol/L (normal for age = < 0.6 nmol/L), demonstrated multiple new, small pulmonary cortisol. Bone age was advanced at 15 years. DHEAS was elevated at 22.4 µmol/L (normal nodules (2 to 4 mm in size). Due to concern Abdominal ultrasound and subsequent MRI for age = 0.2 to 1.8 µmol/L), random cortisol about radiographic progression and improved and fluorodeoxyglucose (FDG)-PET/CT re- was elevated at > 1600 nmol/L (normal for age clinical status, the patient was escalated to full vealed an FDG-avid left adrenal mass mea- and time of collection = 100 to 276 nmol/L), dose cisplatin, etoposide, and doxorubicin in suring 3.4 cm in maximal dimension, with no renin was elevated at 11.82 ng/L/s (normal combination with daily oral mitotane as per extension into adjacent structures or metastatic for age = < 2.30 ng/L/s), and androstenedi- the Children’s Oncology Group ARAR0332 disease. one was elevated at > 41.4 nmol/L (normal protocol.4 She completed six additional cycles of The patient underwent laparoscopic left for age = 0.2 to 0.9 nmol/L). Electrolytes and chemotherapy and continued oral mitotane for a adrenalectomy with perioperative stress-dose aldosterone were normal (2170 pmol/L; nor- total of 18 months. Her major toxicities includ- steroids. Pathology was consistent with ad- mal for age = 135 to 2430 pmol/L). A chest ed mucositis requiring total parenteral nutrition, renocortical adenoma with negative margins. X-ray demonstrated cardiomegaly, and an ECG febrile neutropenia, and grade 3 (moderate to The patient did not require adjuvant treatment. demonstrated biventricular hypertrophy. An severe) bilateral sensorineural hearing loss with Surveillance imaging (abdominal MRI every echocardiogram revealed septal hypertrophy speech delay that required hearing aids. Pul- 3 months for the first 6 months, and abdominal with cardiomyopathy and decreased ejection monary nodules were no longer present by the MRI or ultrasound annually until age 17) dem- fraction. Intermittent left ventricular outflow end of chemotherapy. Repeat echocardiogram onstrated no recurrence. Her symptoms resolved tract obstruction was noted due to the septal demonstrated resolving cardiomyopathy with and she progressed with normal puberty. How- hypertrophy, secondary to chronic endogenous normalization of function (ejection fraction ever, she had prolonged adrenal insufficiency. steroid excess. The patient remained unstable 63%). Ten months following initial diagnosis, Her lack of adrenal recovery was unusual given in the pediatric ICU, with two asystolic cardiac secondary sexual characteristics improved clini- that she had a remaining, presumably function- arrests followed by resuscitation and return of cally. Serum DHEAS and testosterone normal- al, adrenal gland. At the time of transition to spontaneous circulation. A CT of the abdomen ized within 3 to 6 months following surgery adult care, her height was at the 14th percentile revealed a 7.0 × 5.6 × 7.7 cm heterogeneous and six cycles of chemotherapy. The patient (-1.1 SD from mean) and her cortisol levels (at mass arising from the left adrenal fossa, dis- was referred to medical genetics. Family testing baseline and post-adrenocorticotropic hormone placing the ipsilateral kidney. Thrombus was revealed germline TP53 tumor suppressor gene [ACTH] stimulation) remained low. Attempts noted in the left renal vein extending into the mutation (Li–Fraumeni syndrome) in the pa- to wean her off steroids were unsuccessful. At inferior vena cava. A CT of the chest revealed tient, her father, and paternal
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