Wellington Hung

Infantile hypothyroidism in two sibs: An unusual presentation of pseudohypoparathyroidism type Ia

PATIENTS with pseudohypoparathyroidism have clinical and biochemical evidence of hypoparathyroidism, yet fail to show either a ealcemic or phosphaturic response to administered parathyroid extractk In addition to these biochemical abnormalities, many patients have Albright hereditary osteodystrophy, an unusual somatic phenotype characterized by obesity, short stature, brachydactyly, and heterotopic ossification. In many patients with PHP type 1,* impaired renal adenylate cyclase responsiveness to PTH 3 has been associated with deficient activity of the stimulatory guanine nueleotide regulatory protein of adenylate cyclase. 4, 5 Because available evidence suggests that Gs is similar in all tissues, a ubiquitous deficiency of Gs could be the basis for PTH resistance, the hallmark of PHP, and could explain the decreased responsiveness of diverse tissues (e.g., kidney, thyroid gland, gonads, and liver) to hormones that act via cAMP (e.g., PTH, TSH, gonadotropins, and glucagon). 6 Despite the generalized nature of the Gs defect in PHP type Ia , t clinical recognition of the disorder generally

Relationships Between Control and Serum Lipids in Juvenile-onset Diabetes

The relationship between control and serum lipids was examined in 147 children with juvenile-onset diabetes (JOD). Control was assessed by fasting blood glucose, 24-h urine glucose, and fast hemoglobin. There was a significant positive correlation (P < 0.001) between each of the measures of control. Serum cholesterol (P < 0.001), triglycerides (P < 0.001), and low-density lipoprotein plus very low-density lipoprotein cholesterol (P < 0.001) were strongly positively correlated with control for the whole group of patients. High-density lipoprotein was not significantly correlated with control when the data for the whole group were analyzed but was significantly positively correlated with fasting blood glucose when patients were analyzed individually.

Clitoroplasty for females born with ambiguous genitalia: A long-term study of 37 patients

In the past 15 yr, 46 children have been seen because of disfiguring enlargement of the clitoris. Causes of clitoromegaly in these patients are: congenital adrenal hyperplasia, 23; maternal ingestion of hormones, 8; mixed gonadal dysgenesis, 3; true hermaphrodite, 2; male pseudohermaphrodite, 1; Stein-Leventhal syndrome, 1; and idiopathic, 8. In nine patients, particularly early in this experience, enlargement of the clitoris was so marked as to require complete surgical excision of the clitoris. Thirty-seven children have undergone a corrective procedure designed to restore feminine contours and to preserve sexual function. The operation involves recession of the enlarged organ beneath the pubis, reduction of the glans in selected instances, and reconstruction of the mons veneris. Recent evaluation of the patients has been undertaken with focus on: (a) appearance; (b) psychological adjustment; and, in the older patients, (c) sexual function. Results show that 27 patients are judged excellent; three are satisfactory; four patients were not available for follow-up study; eight patients have undergone a second operation. Three patients have an unsatisfactory outcome with persistant enlargement of the clitoris. One of the three required clitorectomy, another has thus far refused additional surgery, the third will undergo further correction later.

Prepubertal male gynecomastia

Only 18 cases of prepubertal male gynecomastia are recorded in the medical literature; to these we add 5 more. The need to differentiate idiopathic gynecomastia from pathologically induced causes is discussed. The microscopic examination of the breast tissue in one of our patients showed cystic dilation of the ducts, a rarely described occurrence in prepubertal children.

Pernicious anemia in a young girlassociated with idiopathic hypoparathyroidism, familial Addison's disease, and moniliasis

A girl with familial Addisons disease, idiopathic hypoparathyroidism, and moniliasis developed pernicious anemia at the age of 10 years. Investigations of her gastrointestinal tract including peroral biopsy were performed. Because of the possible immunologic relationship of pernicious anemia and the endocrinopathies, antibody tests against human gastric mucosa and parietal cells were done and found to be negative. Five cases of pernicious anemia associated with one or the other of these endocrinopathies have been previously reported. At the present time the exact relationship between her hematologic and endocrinologic diseases has not been clarified.

Clinical, laboratory, and histologic observationsin euthyroid children and adolescents with goiters

Seventy-seven euthyroid children and adolescents with nontoxic goiters have been evaluated. Laboratory studies including thyroid function tests, measurement of thyroid antibodies, and biopsy of the thyroid gland were performed. Biopsy revealed that 43 of the patients had chronic lymphocytic thyroiditis, 28 had simple goiters, 4 had adenomatous goiters, and 2 had hyperplasia of the thyroid gland. The clinical and laboratory features used in the differential diagnosis of nontoxic goiters are discussed. Full replacement doses of thyroid hormone have been recommended as treatment in all patients with chronic lymphocytic thyroiditis and colloid goiters.

Mumps thyroiditis andhypothyroidism

Summary An 8-year-old boy developed hypothyroidism 2 years after having mumps thyroiditis. It is not possible to prove that there was a causal relationship between his mumps thyroiditis and hypothyroidism. However, it is important for the pediatrician to evaluate all children with mumps thyroiditis for subsequent development of hypothyroidism.

Calcitonin therapy of children with osteogenesis imperfecta

Two children, ages 13 2/12 and 6 6/12 years, with osteogenesis imperfecta were treated with salmon calcitonin. During the course of therapy the older child developed calcitonin dose-related hypomagnesemia on two occasions. The younger child, coincident with otitis media and vomiting, developed hypomagnesemia, hypophosphatemia, hyponatremia, and hypokalemia. Since rib biopsies obtained before and after one year of treatment with salmon calcitonin failed to demonstrate any histologic changes, therapy was discontinued because of the induced metabolic consequences of calcitonin therapy.

Gonadoblastoma in dysgenetic testis causing male pseudohermaphroditism in newborn

Abstract A newborn with dysgenetic male pseudohermaphroditism associated with a gonadoblastoma is presented. The importance of differentiating this syndrome from other forms of male pseudohermaphroditism is emphasized.

A Large Calcified Craniopharyngioma in the Newborn

Abstract A case of calcified craniopharyngioma in a newborn is reported. A 2-day-old girl presented with convulsions and a large head. Skull films showed a 2 × 3-cm calcified suprasellar mass and slight spreading of the cranial sutures. Surgical biopsy demonstrated a solid craniopharyngioma. This is the second proved report of neonatal craniopharyngioma.